American Journal of Medical Genetics 8:4 11-429 (1981)

Review: DermatogI yp hics in

Medicine - Problems and Use in
Suspected Chromosome
Abnormalities
Terry Reed
Department of Medical Genetics, Indiana University School of Medicine, Indianapolis
Dermatoglyphic findings in patients with chromosome abnormalities are
reviewed including the more common aneuploidies and recently recognized
deficiency and duplication syndromes. Tables of dermatoglyphic changes are
provided to help in the diagnosis of patients with suspected chromosome abnor-
malities. Finally, problems of dermatoglyphic nomenclature and statistics are
considered. It is emphasized that dermatoglyphics should be used in conjunc-
tion with the physical examination rather than as an independent diagnostic
test.

Key words: dermatoglyphics, chromosome abnormalities

INTRODUCTION

The use of dermatoglyphics in clinical medicine dates from Cummins’s work with
the Down syndrome (DS) in the 1930’s [ 1 , 2 ] and earlier observations of palmar crease
abnormalities in this condition [ 3 , 4 ] . The recognition of the chromosomal cause of the
Down syndrome [5] gave strong impetus to the study of dermatoglyphics.
Dermatoglyphics have been analyzed in several groups of conditions including single-
gene disorders and syndromes of unknown cause [6-91. The presence of dermatoglyphic
abnormalities in certain disorders remains unexplained. For example, it is difficult to
explain dermatoglyphc abnormalities in patients with single-gene defects that do not
affect the limbs or skin. In syndromes where the clinical diagnosis is purely subjective, the
probably heterogeneous nature of such patients may affect the variation of reported
dermatoglyphics [8, 10-121. Even in conditions where the diagnosis can be reasonably
certain, such as in the fetal rubella syndrome [8, 13, 141, there is the problem of variability
[15, 161 . This may in part be related to the time of onset of the viral infection.

Received for publication July 3, 1980; revision received December 8, 1980.

Address reprint requests to Terry Reed, PhD, Department of Medical Genetics, Indiana University
School of Medicine, 1100 West Michigan Street, Indianapolis, IN 46223.

0148-7299/81/0804-0411$05.50 0 1981 Alan R. Liss, Inc.

412 Reed

Fig. 1. The use of a foam pad is a helpful aid when taking palmprint (A) and footprint (B) impressions
using the inkless method.

It is not the intent of this paper to review all clinical dermatoglyphic studies in the
literature, but to concentrate on the useful findings reported in patients with chromosome
abnormalities. In addition, some common problems encountered in the literature concern-
ing clinical applications of dermatoglyphics are briefly considered.

MATERIALS AND METHODS

Dermatoglyphic findings can be determined by direct inspection during the physical
examination or by taking prints. In an otherwise clinically clear-cut case of DS, it is not
necessary in all cases to take prints except for research purposes; in a dying infant with
multiple congenital anomalies with chromosome results pending, printing is most important
because it provides a record for future reference.
For direct inspection, any magnifying lens is satisfactory provided there is an ade-
quate light source. The older nonfiber optic otoscopes (Bausch and Lomb, Rochester, NY)
are ideal. When printing older children and adults, the inkless method (Faurot, New York)
is the most convenient. A foam pad, as illustrated in Figure 1, may facilitate using the
inkless method by preventing smearing and allowing full printing in concavities of the hand
and sole. To take prints on infants and small children, ink (Hollister, Chicago) is much
more satisfactory because it records more detail. Inking is also suggested for finger ridge
counting in all subjects. When using ink, a most crucial element is the paper. A firm paper
with a glossy finish, such as Kromecoat (Champion Papers), is strongly recommended. One
of the most difficult aspects of printing small infants is finger clenching. Figure 2 shows
how to scissor the infants’ fingers and hold back the thumb with one hand, leaving the
other hand free to take the print.
 Dermatoglyphics in Chromosome Anomalies 413

Fig. 2. In infants and uncooperative children, scissoring of the child’s fingers with one hand frees the
other hand to take the print. Note the convenient size of the firm glossy paper that is used to take the
inked impression.

Two major systems of dermatoglyphic classification exist; they include 1) the

standard system outlined in Cummins and Midlo [ 171 (with some minor modifications in
the Penrose Memorandum [ 181) and 2 ) the topological classification system [ 19,201. The
former is used in this paper because it is more easily converted into the topological formula-
tion, particularly when whorl patterns are involved. Figures 3-6 outline some of the
major landmarks, patterns, and pattern areas. Some landmarks not covered in the text or
figures and included as entries in subsequent tables are briefly defined in a glossary of
terms in the appendix.
Figure 3 shows the pattern areas of the palm and fingers. Generally, the thenar and
interdigital I areas are considered together. This figure also gives the location of the digital
triradii (lettered a to d ) at the base of digits 2 through 5, which delineate the various inter-
digital (ID) areas. A triradius is a triangular junction formed when three separate ridge
systems meet. Also included in Figure 3 is the axial triradius (t),which separates the
hypothenar area from the thenar area. Four different common fingertip patterns are shown
including the arch with no triradius (thumb); the radial loop (index finger) and ulnar loop
(middle finger), each with one triradius; and the whorl with two triradii (ring and little
fingers). Loops are named for the direction in which they open; arches, where direction
is specified, are named for the side with the concavity.
Figure 4 illustrates some of the quantitative features of the fingers and palms. The
atd angle is an indication of the degree of distal displacement of the axial triradius; the angle
increases as the triradius is more distally located. The number of ridges between triradii a
414 Reed

Fig. 3. Pattern areas and landmarks of the palm. Digital triradii a-d separate interdigital areas I-IV
respectively. The axial triradius ( t )separates the proximal palmar pattern areas. See text for details of
fingertip pattern types. The only palmar pattern present is a small ID-IV distal loop. The patterns for
the hypothenar, thenar/IDI, IDII, IDIII, and IDIV areas, respectively, in shorthand notation is [Link].

and b is the a-b ridge count, and the size of fingertip patterns can be determined by
counting the number of ridges crossing a line drawn from the triradius to the core. As
illustrated, a loop (middle finger) has a single count and a whorl (ring finger) has two
counts, the larger of which is the ridge count. The sum of the ridge count on all 10 fingers
is the total ridge count (TRC). Also shown in Figure 4 are numbers for indicating the
terminations of main lines A-D traced from the a-d triradii. The main-line index (MLI)
is the sum of terminations of the A and D main lines, renumbering the terminations 1 to
5" as 1 to 6 , and 6 to 13" as 1 to 9. The MLI is 7 on this palm.
The palmar creases are indicated in Figure 5. Normally, there are 2 flexion creases on
each digit and 3 major palmar creases (the distal transverse crease (DTC), the proximal
 Dermatoglyphics in Chromosome Anomalies 4 15

Fig. 4. Quantitative features of the palm including the atd angle, a-b ridge count and main line termina-
tions. 9.7.5”.3 is the shorthand notation for the terminations of main lines D, C, B, and A, respectively,
on this palm. See text for details of fingertip ridge counting.

transverse crease (PTC), and the thenar crease (TC). Variant creases, indicated by number,
include the following:
1. An extension of the PTC to the ulnar border of the hand is called a Sydney line.
Sydney lines have been reported more common in Down syndrome and other conditions
associated with an increased frequency of simian crease [21]. There is some confusion in
classification and difference of opinion in some of the same conditions that have a higher
frequency of simian creases.
2. An extension of the DTC to the radial border of the palm results in a horizontal
transverse crease that can be mistaken for a simian crease. We have observed this variant
in some of the same conditions that have a higher frequency of simian creases.
3. A simian crease is a single transverse palmar crease that replaces the DTC and PTC
and may represent either fusion of the normal 2 creases or loss of either one.
416 Reed

Fig. 5 . Palmar creases. Major creases are the distal transverse crease (DTC), the proximal transverse
crease (F’TC), and the thumb crease (TC). Variants described in the text are the Sydney line (l),
horizontal DTC (2), and simian crease (3). The distal displacement of the axial triradius can be quanti-
tated by calculating the percent distance from X to the axial triradius of the total distance from X to Y.

In Figure 5, line X indicates the most distal wrist crease and line Y the most proxi-
mal matacarpophalangeal crease of digits 3 and 4. The distance from X to the axial triradius
over the distance from X to Y , expressed as a percentage, can be used to classify the axial
triradius. If there is more than one axial triradius, the one most distally located is used. A
semiquantitative notation is often used (t = < 15%, = 15%-39%, t” = 240%) [ 18, 221 .
Figure 6 indicates some of the analogous landmarks on the sole. A triradius when pre-
sent in the proximal portion of ID 11,111, and IV is lettered p, p’, and p” respectively.
 Dermatoglyphics in Chromosome Anomalies 417

Fig. 6 . Analogous patterns and landmarks on the sole. The digital triradii (a-d) are sometimes difficult
to obtain on a single print. Zygodactyly commonly is found on the sole reflected in an absence of one
or more of the digital triradii. This sole has a whorl in the hallucal and interdigital 111 areas and a tibial
loop in the hypothenar area ([Link]). Toe patterns are respectively from I to V: fibular loop,
fibular loop, double loop, fibular loop, arch.

In the hallucal area, there may be both an e and ftriradius (as shown), only an e or an f
triradius, or neither an e nor f triradius. The tibial arch pattern in the Down syndrome
is a prime example of the latter.

Findings in Chromosome Abnormalities

With the exception of the specific DS indices [22-281, the importance of a given
dermatoglyphic aspect when present in an individua1,patient is difficult to assess. No
dermatoglyphic pattern is pathognomonic for any condition and the presence of a specific
feature is not obligatory for a diagnosis. However, the hallucal arch-fibular-S pattern in
the trisomy 13 syndrome, the virtually constant presence of at least one fingertip arch in
the trisomy 18 syndrome, and the peculiar vertical plantar creases in trisomy 8 may be
notable exceptions. Preus and Fraser [29] attempted to quantitate dermatoglyphic
changes in a great number of conditions. The approach utilized here is qualitative. Changes
that are present in a relatively hgh frequency of affected individuals are considered, as
well as changes that may occur in only a small number of patients but are distinctive
enough to point toward a particular diagnosis. The latter are helpful when present but do
not strongly rule out a diagnosis when absent. Where possible, each entry in the table is
given a review reference (from which approximate frequencies can be obtained if available;
similarly, each individual change may have a representative individual reference).
418 Reed

TABLE I. Dermatoglyphic Findings in Chromosome Abnormalities: Characteristic Findings That May

Be Diagnostic or Strongly Suggestive of a Diagnosis

Other nonspecific changes

Chromosome Useful findings when present together found more frequently
abnormality point specifically toward the diagnosis than normal

Trisomy 21 1. Hallucal - arch tibial, small distal loop [ 221 . 1. Palmar interdigital (ID)
[8, 29,411 2. Fingers primarily ulnar loops [ 1 , 2 ] (particularly 111 distal loops [ 1 , 2 ] .
(diagnostic indices index); radial loops on digits IV or V [ 1, 2,221 ’. 2. Simian creases [ 3 , 4 , 4 7 ] .
available) 3. Bilateral distal ( t ” )axial triradii with t atd 3. Absence of thenar
[22-25, 271 angle [ 4 2 ] . patterns [ 1 , 2 , 4 7 ] .
4. Hypothenar ulnar loops, whorls, or carpal 4. Palmar ID I1 distal
loops [ 4 3 , 4 4 ] . loop [ 1 , 2 ] .
5. Single flexion crease, digit V [4, 361 ’. 5. Sydney line [21]
6. Plantar ID IV distal loop (even without other
ID patterns) [ 4 4 , 4 5 ] .
7. Pearl-string-line appearance of ridges [46] .
Trisomy 18 Fingers overlap (index over middle, little over ring); 1. Hallucal arch patterns [SO]
18,291 hypoplastic thumb [48]. 2. Simian creases [49,52].
1. Severe ridge hypoplasia [49, SO]. 3. Absent c triradius [ 81.
2. Fingertip arches (average 7-8/case) 4. t‘ or t” axial triradius
(without at least one arch, the diagnosis is [49,54].
suspect [ 5 1 , 5 2 ] ) 5. Thenar patterns [ 5 2 ] .
3. Big toe arches (- 100%) [50,52]
4. Radial loop on thumb if not an arch [52,53].
5. Single flexion crease, digit V [51, 521.
Polydactyly (postaxial) [48] 1. Palmar ID 111 patterns [55]
1. Hallucal - arch fibular S, proximal tibial loop, 2. Simian creases [ 4 9 , 5 1 , 5 2 ] .
fibular arch [ 4 9 , 5 1 , 5 2 , 5 5 ] . 3. Radial loops on digit 111
2. Extreme distal (t” or t ” ’ ) axial triradii or thumb [ 8,291.
[49,51,52,55]. 4. Fingertip arches [29,55].
3. Radial loops on digits IV and/or V [ 5 2 , 5 5 ] .a 5. Thenar termination of
4. Extreme radial displacement of a triradius A main line [ 8 ] .
[52,55].
5. Thenar patterns [ 52,551 a

aDefinitely occur in a minority of cases, very helpful when present.

Table I includes the trisomy 2 1, 18, and 13 syndromes in which the diagnosis can
be made frequently on the basis of the prints alone. In all tables, other hand anomalies are
included even though the anomaly is not a dermatoglyphic finding. In Tables I and 11, the
conditions are listed in approximate order of importance on the basis of the findings. The
order is admittedly subjective.
Table I1 lists those disorders where prints alone are not diagnostic. If the dermato-
glyphic findings are in agreement with the clinical impression, the diagnosis is highly pro-
bable. Some of the newly recognized duplication and deletion syndromes are included in
Table 11, but the majority of such conditions appear in Table 111. Table I11 lists in numerical
order a number of newer chromosomal syndromes, and the anomalies cited must be con-
sidered tentative. In many instances, only a few patients have had dermatoglyphic studies;
in others, there have been more patients, but the dermatoglyphic findings are variable or
insufficiently documented.
Table IV includes the common gonosomal aneuploidies (other than the Ullrich-
Turner syndrome) in which minimal but consistent differences have been noted. The
 Dermatoglyphics in Chromosome Anomalies 419

TABLE 11. Dermatoglyphic Findings in Chromosome Abnormalities: Findings Alone Not Diagnostic,
but if in Agreement With Clinical Impression, the Diagnosis IS Highly Probable

Chromosome Nonspecific changes found

abnormality Commonly found and/or distinct features more frequently than normal

Trisomy 8 1. Deep vertical plantar furrows and deep palmar 1. Hallucal whorls (with whorls
[8,561 creases (may disappear with age) [ 571 . in other plantar ID areas [56].
(most are mosaics) 2. t plantar and palmar pattern intensities [57]. 2. Simian creases (unilateral
3. Zygodactyly on soles ( - 100%)[ 561. commonly) [ 8,561.
4. Plantar ID IV whorl [56]. 3. t' or t" axial triradii
5. Itotal ridge count (TRC) with some fingertip [ 8,56,57] .
patterns arches (and small whorls)a [57,58] 4. Thenar patterns [ 8,561.
6. Big toe arches [ 561.
7. Palmar ID loops off accessory triradii [56].
Ullrich-Turner 1. Hallucal distal loop/fibular loop [ 291 a. 1. Thenar exit of A main line
Syndrome [ 8,29, 2. t TRCwithnoincreaseinwhorls [41,59]. [ 29,41,61].
411 (45,X more 3. Hypothenar - complex patterns or Lu, Lc, S, or W 2. Simian creases [ 8,59,63 1.
typical than other 4. f a-b ridge count [ 8,591 a. 3. Absent c triradius [41,59].
chromosomal types 5. t' andt" axial triradii [59,61] and t atd angle 4. Plantar p triradii absent [8].
[ 591 ;cases with [ 8,41,59].
a Y chromosome 6. Plantar ID 111 proximal loop or whorl [59,62].
may be more
asymmetric in
ridge count [ 601 )
dup(9p) Palms too long in relation to fingers 148,641. 1. t ' axial triradius [48,64,66,
1. Singleflexioncrease,digitVandothers [48,65,66]. [48,64,66,67].
2. Simian creases and variants (over 90%) [48,64, 2. Lack of palmar patterns
65,661. other than thenar
3. Absent or fused b-c triradii [48,64,65, 661. [64,66,67].
4. J- .1 TRC, fingertip arches and lack of whorls 3. Plantar ID 111patterns
[ 64,66,67]. [66,67].
5. Lack of any whorls on toes [ 661. 4. Transverse ridge alignment
6. Thenar patterns - complex types [ 64,66,67] a. (A-5 or higher) [64,66,67].
7. Hallucal arch patterns [66] a.
8. Plantar ID IV proximal loop [67] a.
1. Deep horizontal plantar furrow [68]. 1. t whorls (versus other
2. Ridge hypoplasia [ 68,691. family members) [69].
3. Abnormal palmar creases (simian, distal 2. Single flexion crease -
displacement of distal transverse crease, hypothenar little finger [69].
crease) [ 69,701. 3. Distal axial triradii
4. Main line C terminates in 11, B in 9 [ 691 > (rarely t') [69].
5. Palmar ID 111 patterns (many from b triradius)
[ 68,691.
1. Palmar IDIVPattem (commonly fromd 1. Simian creases
triradius) [ 8,29,7 11. [8,71,72,73].
2. Plantar IDIVdistalloop [44,71]. 2. t' axial triradii [ 8,29,
3. Palmar ID IV whorl [44,71] a. 72,731.
4. Ulnar termination of C main line [ 8,721. 3. Thenar patterns
[ 8,29,71,72].
4. Hypothenar radial
loop/ulnar loop [441.
5. Radial loops on digits
111, IV, or V [ 29,441.
6. Hypothenar radial arch
[441.
7. Hallucal distal loop
[8,291.
Table I1 continued
420 Reed

TABLE 11. Dermatoglyphic Findings in Chromosome Abnormalities: Findings Alone Not Diagnostic,
but if in Agreement With Clinical Impression, the Diagnosis Is Highly Probable (continued)

Chromosome Nonspecific changes found

abnormality Commonly found and/or distinct features more frequently than normal

del( 18q) Relatively large fingertips on long tapering 1. Large fingertip whorls
fingers [48, 741. [ 8, 29,48,74].
2. Fingertip archesrare [48].
3. Simian creases [ 8,741.
4. t' axial triradii [ 8,741.
5. a-b ridge count decreased
[81.
del(9p) 1. Long fingers with extra flexion crease 1. t TRC and fingertip
(middle phalanx) [48,64]. whorls [48,64,68].
2. Simian creases [ 681.
3. t" axial triradii [48,64].
del(4~) 1. Ridge disruption and hypoplasia [ 8,72,74]. 1. Simian creases [8,48,74].
2. Fingertip arches and J. TRC
[ 8,48,72,74].
3. Thumb double loop with
index and/or middle
finger arch [ 751.
4. Thenar patterns [ 8,481.
del( 22q) 1. Fingertip whorls [ 761.
2. Distal (t") axial triradii
[48,76,77].
3. Hypothenar whorls, Lu
or composities 1761.
4. Absent c triradius [76].
5. Hallucal whorl or distal
loop [ 761.

aDefinitely occur in a minority of cases, very helpful when present.

changes listed can be used to support a clinical impression but in general have little
diagnostic usefulness.
Diagnostic indices are available and readily useful for the Down syndrome (trisomy
21) [22-25,27-281. Indices for the diagnosis of the Ullrich-Turner syndrome combine
roentgenographic or physical measurements and dermatoglyphic criteria [30-321.
Recently Otto and Otto [33] indicated the Ullrich-Turner indices may not be more efficient
than consideration of a single dermatoglyphic variable. Penrose and Loesch [26] provided
discriminants for a number of the more common chromosomal conditions that are too
complex to be readily utilized by the clinician.
Although highly efficient, none of the 4 commonly cited indices for the diagnosis of
DS [22-251 provides 100%separation of DS from normal controls. A key question is
where to draw the cutoff points for the indices. Both the Hopkins [23] and Radboud [25]
scores use a single point of discrimination that corresponds to the point of minimum mis-
classification. If this single point is used as the criterion for classification and one assumes
that an index correctly classifies 95% of subjects, it still means that one of every 20 cases
will be incorrectly classed. The Walker index [22] and dermatogram [24] methods employ
 Dermatoglyphics in Chromosome Anomalies 421

TABLE 111. Dermatoglyphic Findings in Chromosome Abnormalities: Insufficient Numbers of

Cases and/or Minimal Findings Reported

Chromosome abnormality Reported findings

~~ ~

1. Long tapering fingers and toes (may overlap as well) [78].

2. Partial syndactyly [ 781.
3. Simian creases [781.
1. Long fingers and toes [79].
2. White lines and secondary creases [ 79, 801.
3. Prominent palmar pads with ID whorl patterns (particularly thenar
area ) [ 79, 801.
4. Radial termination of A main line [ 801 .
1. t' or t" axial triradii [79].
2. t arches on fingers [79].
3. Several radial loops on fingers [ 791 .
1. Syndactyly [81].
2. Fingertip whorls with prominent pads [48, 79, 811.
1. Simian creases [ 821.
2. Radial loops on ring or little fingers [ 82, 831 .
3. t fingertip arches and .1 TRC [ 831 .
4. Longitudinal palmar A main line (A-1 or A-2) [ 831.
1. Preaxial polydactyly or bifid thumb [48, 641.
2. Simian creases [48, 841.
3. Fingertip whorls (central pocket type) [48, 64, 68, 841.
4. t TRC [68].
5 . t a-b ridge count [68].
6. .1 palmar pattern intensity [68].
7. t' axial triradius [ 64, 841 .
1. Simian creases (48, 851.
1. Simian creases [48, 871.
2. Single flexion creases of little finger [ 86, 871 .
Dup (5P) 1. Ulnar loops on fingers (> 8) [88, 891.
2. Hallucal tibial arches [ 89, 901 .
3. t" axial triradii [ 901 .
1. Thumb abnormalities (duplicated, triphalangeal) [91, 921.
2. Fingertip whorls [91, 921.
3. Hallucal arches including tibial arches [ 91, 921.
1. Fingertip arches [93].
2. Hypoplastic palmar creases [93].
3. Syndactyly [ 931 .
4. Loop/arch accidental fingertip patterns [93].
1. J- TRC [94].
2. Simian creases [ 941 .
1. Simian creases [95].
1. t TRC [94].
2. Simian creases [ 941 .
1. Absence of finger flexion creases [48].
2. Absent b and/or c triradii [ 481 .
3. Simian creases [48].
4. Deep skin creases in palms or sole similar to trisomy 8 [96].

Table 111 continued

422 Reed

TABLE 111. Dermatoglyphic Findings in Chromosome Abnormalities: Insufficient Numbers of

Cases and/or Minimal Findings Reported (continued)

Chromosome abnormality Reported findings

1. Overlapping fingers - index at right angle to others [ 48, 641.

1. Simian creases [48, 701.
2. Fingertip ulnar loops [48, 701.
3. Deep plantar furrow from between digits I and I1 io fibular
border [70].
1. Fingers folded into palm (ie, clenched fist) [48, 971.
2. t t a-b ridge count (radially displaceda triradius) [68, 97, 981.
3. Ridge hypoplasia [68, 691.
4. Distal transverse crease exits palm between index and middle
finger [68, 981.
1. Simian creases [48, 641.
2. Polysyndactyly in some pure 12p+ cases 1991.
1. Absent or hypoplastic thumb (if thumb is normal so are
dermatoglyphics) [ 48, 1001 .
2. Syndactyly with missing or fused digital triradii [48, 68, 1001.
3. Absent axial triradii (when thumb absent) [68, 1001.
4. Fingertip whorls [68].
5. Simian creases [ 1001 .
Dup( 14q) 1. Simian creases [IOl, 1021.
2. Fingertip arches (2" to distal digital hypoplasia) [ 1021.
Del( 18p) 1. Telescoping tapered fingers [48].
2. t' axial triradius [ 8, 481 .
3. Absent c triradius [ 81 .
4. Simian creases [ 81.
1. Simian creases [48].
2. Fingertip arches [ 1031.
1. Absent or misplaced b, c, d triradii [76, 771.
2. Radial loops digits II and III [44, 74, 761.
3. Fingertip arches (76, 771.
4. Simian creases [44].
Del(2lq proximal) 1. Trisomy-18-like finger flexion [48]
2. Fingertip whorls [ 681.
3. Hypothenar patterns [48].
4. Palmar ID 111 and IV patterns [48]
Trisomy 22 1. Finger-like thumb [ 1041.
2. Occasional supernumerary flexion crease on fingers [48].
3. Simian creases [48].

2 points of discrimination that correspond to areas of no overlap of the 2 distributions,

and although a greater number of cases falls into the questionable area, those subjects out-
side the overlap have a much smaller chance of being incorrectly classified. Habbema and van
der Burgt [34] indicated that in allocation problems, an area of doubt (ie, overlap) may be
a useful indicator of when to do more definitive tests such as cytogenetic analysis.
Problems
Two major problems in the clinical interpretation of dermatoglyphics pertain to
nomenclature and statistics.
 Dermatoglyphics in Chromosome Anomalies 423

TABLE IV. Dermatoglyphic Findings in Chromosome Abnormalities: Other Sex Chromosomal

Aneuploidies Widely Studied With Minimal but Consistent Differences From Normal; Diagnosis
Made on the Basis of All Phenotypic Changes

Chromosome abnormality Findings

47,XXx 1. ITRC (XX > XXX > XXXX > XXXXX) [ 8 , 4 8 , 1 0 5 ] .

2. Fingertip radial loops [48, 1061.
3. Fingertip arches [ 10, 19, 1021.
47,XXY 1. J. TRC [8, 4 1 , 4 8 , 105, 1071.
2. Simian creases [ 4 8 ] .
3. J. a-b ridge count (XX > XXY > XXYY > XXXXY)
[41, 107-1091.
48,XXYY, 49,XXXXY 1. J. TRC (XY > XXY > XXYY > XXXXY) [ 8 , 4 8 , 74, 105,
1091.
2. Fingertip arches [ 8 , 4 1 , 4 8 , 741.
3. Hypothenar ulnar triradii [ 8 , 4 1 , 48, 741.
4. Absent d triradius (49,XXXXY only) [ 11 0, 111 ] .
47,XYY (not much use clinically) Normal, or very slight reduction in total ridge count [ 8 , 7 4 , 1 1 2 ] .

Nomenclature problems arise in part from the different systems of classification pre-
viously noted. In case reports, an accurate description of the findings is crucial in rare dis-
orders. As a minimum, the findings should be indicated in shorthand notation [8, 171. For
example, [Link]-t’-Lr.[Link] conveys more information about a palm than a statement
that the dermatoglyphics were judged normal. The next step would be t o present schematic
drawings of the dermatoglyphics, necessary only when there are changes that cannot be
described adequately in the shorthand notation. Where possible, all first-degree relatives of
aneuploid patients should be studied. Findings considered normal in an individual may be
highly abnormal when compared with the rest of the family.
Statistical problems are of several different types. It is unavoidable in many disorders
to have only a small number of cases, but controls should number approximately 100 in-
dividuals to minimize sampling fluctuations. Even an adequate sample size can lead to
erroneous conclusions when the authors have not recognized that their control group differs
grossly from other control groups [35,36]. It must also be remembered that usually many
variables are compared in dermatoglyphic studies, and a significant (P< 0.05) difference
between patients and control subjects can be expected in 1 in 20 variables by chance alone.
Properly matched controls are also important. For example, the studies of Goto et a1 [37],
utilizing predominantly male medical student controls, are suspect because the trait analyzed
differs between men and women. Finally, statistical significance can not be equated with
clinical significance. To claim that a statistically significant increase in the frequency of a
trait, such as fingertip ulnar loops in cancer (70.4% versus 61 S%), may help in distinguishing
persons predisposed to malignancy [38] is of little clinical value.

DISCUSSION

The tables presented here should not be applied in the screening of all newborns but can be
useful in the evaluation of patients with undiagnosed multiple congenital anomalies (MCA)
syndromes and/or unexplained mental retardation (MR). In some instances, the patterns
will suggest a diagnosis, and in the case of the DS, specific indices can be utilized. In rare
instances, where consent for chromosome analysis is refused or where there is failure to
424 Reed

obtain a satisfactory chromosome analysis, dermatoglyphics may be the only objective

means of diagnosing DS or other conditions in Table I, or perhaps even some conditions in
Table 11.
In some instances, dermatoglyphic studies may indicate a possible chromosome in-
volved as the cause of a patient’s abnormalities. For example, we have studied a child with
dermatoglyphic changes suggestive of 9p- but with apparently normal chromosomes. A
re-examination of the chromosomes showed a small deletion of the short arm of chromo-
some 9. Another patient had changes suggestive of the 9p- and the Ullrich-Turner syn-
dromes. The patient was found to have an X/9 translocation. Since there are many different
chromosome banding techniques that cannot all be used on every patient, dermatoglyphics
can help suggest when additional banding studies might be appropriate. Even if the MCA/
MR patient has apparently normal chromosomes, the dermatoglyphics may give clues to
the timing of developmental defects, ranging from gross changes indicative of very early
first trimester events to completely normal patterns suggesting late 2nd or 3rd trimester
insults.
Better understanding of the inheritance of dermatoglyphic patterns would make them
more useful in clinical medicine. Fuller [39] is pessimistic concerning the use of dermato-
glyphics in medicine, and some of his points are well taken, particularly those pertaining
to selection of disorders for dermatoglyphic studies and the use of dermatoglyphics in
making prognostic and diagnostic statements. Shapiro [40] has shown that increased
variances of metric traits and an increased frequency of qualitative traits in aneuploidy can
be explained by developmental pathway instabilities. As a consequence, several chromo-
some abnormalities may be found in association with an individual feature. Only differences
in frequency, intensity, and multiplicity of anomalies can be characteristic enough to sug-
gest a diagnosis. In retrospect, it seems unfortunate that there was so much early success
with dermatoglyphics in the diagnosis of DS because there is a tendency to divorce
dermatoglyphics from the physical examination and to view dermatoglyphic studies as a
separate diagnostic or even laboratory test. Dermatoglyphic studies should be an integral
part of every physical examination.

APPENDIX

Glossary of Terms (Not Illustrated or Defined in Text)

Accessory triradius An additional triradius that occurs in palmar interdigital areas
11-IV. Accessory triradii are located more proximal than the digital
triradii and are lettered a’-d’ after the closest digital triradius.
Accident a1 A complex pattern formed by 2 or more unrelated patterns on the
same digit. For example an arch with a neighboring loop is an arch/
loop accidental.
Arch fibular S A plantar hallucal pattern most commonly found in patients with
trisomy 13. It is a fibular arch where the proximal radiant of the f
triradius, instead of coursing transversely across the sole, runs
proximal and then tibial. The distal radiant off corresponds to the
top part of the “S” and the proximal radiant to the bottom half.
A synonym of the pattern is a proximal tibial loop for those who
consider arches as nonpatterns. The bottom half of the “S” is a
tibial loop, proximal in location and from the f triradius instead
of the e triradius.
 Dermatoglyphics in Chromosome Anomalies 425

Central pocket loop A whorl variant in which a small whorl lies inside a loop pattern.
Central pocket loops are named for the direction in which the core
opens and commonly the triradius on the open side of the loop is
not well formed giving the whorl a “tear-drop’’ appearance.
Double loop A whorl variant composed of interlocking loops. The double loop
has 2 triradii and two cores and the loops can be intertwined (twin)
or appear to lay on top of one another (lateral pocket).
Hypothenar crease A vertical crease within the hypothenar area of the palm. The con-
cavity of the crease is toward the ulnar border of the hand. The
vertical crease appearing to separate the thenar and hypothenar
areas in Figures 3-5 is not a hypothenar crease but another corn-
mon but highly variable secondary crease.
Pattern intensity A quantitative approximation of pattern complexity in fingers,
palm, or sole. Pattern intensity can be determined by summing
the number of triradii or by adding the number of loops with
whorls counting as 2 loops.
t ‘I’ triradius An axial triradius that is extremely distally displaced (over 55%).
Depending on the palmar creases, t”’ triradii can be located distal
to the proximal transverse crease or beyond a simian crease.
Thenar (radial) The termination of the A main line in position 1 as numbered in
termination of Figure 4.
main line A
Ulnar termination The termination of the C main line in positions 3 , 4 , or 5 as
of main line C numbered in Figure 4. In normal individuals, C terminations in
3 or 4 are rare.
Ulnar triradius An additional triradius in the palmar hypothenar area, usually in
association with a hypothenar pattern, but located toward the
ulnar side of the hand. Sometimes ulnar triradii are subdivided into
ulnar and border to differentiate ulnar triradii at the extreme edge
of the palm.
White lines Shallow grooves in the dermal ridges, which appear as white lines
on prints, as a result of skin buckling. If severe enough, white lines
may interfere with recognition of the underlying patterns.
Zygodactyly In dermatoglyphics, this refers to the absence of digital triradii as
a result of soft tissue webbing or syndactyly of digits. Commonly,
an interdigital or zygodactylous triradius will be present replacing
the missing triradii of the digits involved.

ACKNOWLEDGMENTS
This is publication No. 80-1 6 from the Department of Medical Genetics and is sup-
ported in part by the Indiana University Human Genetics Center, PHS P50 GM 21054. I
wish to thank Joe C. Christian, PhD, MD for hls critical reviewing of the manuscript, and
John M. Opitz MD for his strong encouragement and helpful suggestions.

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 Dermatoglyphics in C h r o m o s o m e Anomalies 429

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Edited by J o h n M. Opitz