finger pattern combinations in normal individuals and in down's syndrome

Finger Pattern Combinations in Normal Individuals and in Down's SyndromeAuthor(s): Margaret W. Thompson and Elizabeth BandlerSource: Human Biology, Vol. 45, No. 4 (December 1973), pp. 563-570Published by: Wayne State University PressStable URL: http://www.jstor.org/stable/41459904 .

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Finger Pattern Combinations in Normal Individuals and in Down's Syndrome

By Margaret W. Thompson1»2 and Elizabeth Bandler1

ABSTRACT

The fingerprints of 592 normal subjects and 125 patients with Down's syndrome have been analyzed in "sets", a set comprising the 10 fingerprints of one individual. For all pattern types in normals and all except radial loops in Down's syndrome, the number of persons with few or many patterns of a single Galton type exceeds binomial expectation, while the number in the intermediate range is correspondingly below expectation. These observations demonstrate that the fingerprint patterns are not independently determined, but that the patterns in any one individual tend to be alike.

There are several reports of the relative proportions of fingerprint types in normal populations and in patients with Down's syndrome (mongolism), but few if any studies in which the 10 fingerprints of a single subject are considered as a unit. Analysis of fingerprints in such "sets" would add to present knowledge of the genetic determination of pattern types and would provide data for comparative studies in subjects with abnormal karyotypes. It therefore seems useful to record observations of the fingerprint sets of 592 normal subjects and 125 patients with Down's syndrome.

Material and Methods

The fingerprints of 592 phenotypically normal individuals and 125 cytogenetically proven cases of Down's syndrome have been classified in the four main Galton types ( Penrose, 1968 ) and have been analyzed for the total number of patterns of each type per 10-finger set, using a program written for the 7044 computer. The normal subjects were uni-

1 Department of Genetics, Hospital for Sick Children, and Departments of Paediatrics and Medical Genetics, University of Toronto, Toronto, Ontario, Canada.

2 Supported by Medical Research Council of Canada, Grants MA-2691 and MT-1203.

Human Biology , December 1973 , Vol. 45, No. 4 , pp. 563-570 © Wayne State University Press, 1973



564 M. W. Thompson and E. Bandler

versity students residing in the Toronto area. The Downs patients were children seen at the Hospital for Sick Children, Toronto, for con- firmation of the diagnosis by dermatoglyphic and chromosomal ex- amination; all had the standard 21 trisomy karyotype. The sex distribution was approximately equal in both series, and the sexes have been combined for all analyses.

Results and Discussion

The relative proportions of pattern types observed in the present study are in reasonable agreement with previous observations (Table 1). The frequency of whorls in our series is slightly lower than that observed in Walker's earlier Toronto study (Walker, 1958) and closer to those of Holt (1964) and Lu (1968), possibly reflecting a change in the ethnic background of University of Toronto students in the intervening years. As expected, the Downs series has more ulnar loops and correspondingly fewer whorls than the normal series (ulnar loops, Down's 79.84%, normals 63.00%; whorls, Downs 15.60%, normals 26.94% ) .

Table 1

Frequencies of Fingerprint Types in Normal Individuals and Patients with Down's Syndrome (per cent )

PRESENT PATTERN TYPE STUDY HOLT LU WALKER

NORMALS NUMBER 592 1000 299 328 WHORL 26.9 26.1 23.4 28.4 ULNAR LOOP 63.0 63.5 64.0 61.1 RADIAL LOOP 4.7 5.4 4.7 4.9 ARCH 5.4 5.0 7.3 5.6 UNIDENTIFIED - 0.6

DOWN'S SYNDROME NUMBER 125 310 363 177 WHORL 15.6 12.7 14.3 20.2 ULNAR LOOP 79.8 82.8 80.3 75.1 RADIAL LOOP 3.0 1.8 2.0 2.5 ARCH 1.6 2.7 3.2 2.3 UNIDENTIFIED - 0.2



Finger Print Pattern Combinations 565

The frequencies of pattern types by individual digits in the normals are shown in Table 2. In Table 3, the same data are classified, separately for the four pattern types, as to the number of subjects with 0, 1, 2 ... 10 patterns of each type.

To compare the distribution of individuals with 0, 1, 2 ... 10 patterns of any one type with the distribution expected if the probability of occurrence of a particular pattern on any digit is random, expected values have been calculated binomially for each type on the basis of the observed frequency of that type in the series as a whole. For example, the frequency of whorls in the normal series is 26.94%. Thus the probability that any pattern is a whorl (qw) is 0.269 and the probability that it is not a whorl is pw = 1 - qw or 0.731. The expected proportions of individuals with 0, 1, 2 ... 10 whorls per 10-finger set can then be calculated from the expansion of (pw + qw)10-

Table 4 shows the distribution of pattern types on individual digits in the Downs series. In Table 5 the same data are classified as to the number of Down's patients with 0, 1, 2 ... 10 patterns of each type, and compared with binomial expectation on the basis of the relative frequencies of the pattern types in the Down's group.

In the normal series, as Table 3 shows, for each pattern type there is a statistically significant "excess" of individuals at the two extremes of the range, with a corresponding "deficiency" in the intermediate area, as compared with the random expectation. For example, 185 subjects had no whorls, whereas 25.64 such subjects were expected, and 117 had many whorls (6-10), whereas only 16.81 were expected; the observed number of patients with an intermediate number of whorls (1-5), 290, is correspondingly below the expected 549.54. For ulnar loops, there are more subjects than expected with fewer than 4 or more than 7 loops, and fewer than expected with 4 to 7 loops. Radial loops fit the expected distribution much more closely, though the differences are still significant. Perhaps the most marked deviation in distribution is that of arch patterns; 17 subjects have 5 or more arches, whereas if the distribution of this relatively rare pattern were random, almost no subjects with more than 4 would be expected.

In the Down's series (Table 4), the observations for whorls and for ulnar loops are similar to those in the normals, although the higher frequency of ulnar loops in the Down's group alters the expected proportions. More patients than expected are at the extremities of the range, and fewer in the intermediate area, for both whorls and ulnar loops. However, for radial loops the distribution closely fits random



566 Aí. W. Thompson and E. Bandler

Table 2

Frequencies of Fingerprint Types in 592 Normal Individuals Digit

L5 L4 L3 L2 LI PATTERN No. % No. % No. % No. % No. %

Whorl 71 12.0 203 34.3 94 15.9 167 28.2 179 30.2 Ulnar Loop 508 85.8 368 62.2 419 70.8 246 41.5 385 65.0 Radial Loop - 5 0.8 18 3.0 123 20.8 2 0.3 Arch 13 2.2 16 2.7 61 10.3 56 9.5 26 4.4 TOTAL 592 100.0 592 100.0 592 100.0 592 100.0 592 100.0

R1 R2 R3 R4 R5 TOTAL No. % No. % No. % No. % No. % No. %

222 37.5 205 34.6 110 18.6 251 42.4 93 15.7 1595 26.94 355 60.0 211 35.6 425 71.8 324 54.7 489 82.6 3730 63.00

2 0.3 107 18.1 11 1.9 7 1.2 - 275 4.65 13 2.2 69 11.7 46 7.8 10 1.7 10 1.7 320 5.41

592 100.0 592 100.0 592 100.0 592 100.0 592 100.0 5920 100.00

expectation, and for arches the deviation from expectation, though statistically significant, is less marked.

The observation that the fingerprints of a single subject tend to be alike is not unexpected, since they are determined by the same genes and subject to much the same environmental effects.

Simple counts of the number of digits with a specific pattern per individual involves an oversimplification, since it disregards the variation in frequency of pattern types on different digits shown in Tables 2 and 4. It also fails to take into account the known correlation of pattern types in any one person, as demonstrated by bilateral sym- metry (Cummins and Midlo, 1943) and by the tendency for digits 1 and 4 of the same hand to resemble one another (Poll, cited by Cummins and Midlo, 1943).

More sophisticated methods of analysis can be devised, but larger samples would be required if all possible combinations were to be observed. For example, Lu (1968) has analyzed a sample of 943 individuals (363 Downs, 281 other mental retardates, and 299 normals), considering each of the ten fingers separately, and has found 459 different ten-finger patterns in the 943 subjects. As Lu noted, many of the 410 theoretically possible fingerprint patterns were not observed in his sample. Because there is such wide variability, only a




very large sample could be expected to include all possible combinations in their true proportions.

Table 3

Frequencies of Fingerprint Types in 5 92 Normal Individuals as Compared with Binomial Expectation

NUMBER OF WHORL ULNAR LOOP PATTERNS OF (q w = 0.2694 ) ( qu =0.6301 ) STATED TYPE

PER 10 Obs. Exp. Obs. Exp. FINGERS No. % No. % No. % No. %

0 185 31.3 25.64 4.3 21 3.5 0.03 - 1 89 15.0 94.57 16.0 12 2.0 0.48 0.1 2 77 13.0 156.94 26.5 31 5.2 3.71 0.6 3 49 8.3 154.34 26.1 38 6.4 16.85 2.9 4 54 9.1 99.61 16.8 42 7.1 50.21 8.5 5 21 3.5 44.08 7.4 51 8.6 102.63 17.3 6 34 5.7 13.55 2.3 77 13.0 145.66 24.6 7 30 5.1 2.86 0.5 86 14.5 141.77 24.0 8 25 4.2 0.40 0.1 100 16.9 90.55 15.3 9 10 1.7 0.03 - 85 14.4 34.27 5.8 10 18 3.0 - 49 8.3 5.84 1.0

X2 = 1732 X2 = 788 d.f. = 6 d.f. = 6 P < 0.005 p < 0.005

RADIAL LOOP ARCH (qT = 0.0465) (t/a = 0.0541)

Obs. Exp. Obs. Exp. No. % No. % No. % No. %

383 64.7 367.91 62.1 455 76.8 339.61 57.4 148 25.0 179.23 30.3 66 11.1 194.06 32.8 56 9.5 39.29 6.6 33 5.6 49.90 8.4 5 0.8 5.10 0.9 16 2.7 7.60 1.3

0.43 0.1 5 0.8 0.76 0.1 0.02 - 3 0.5 0.06 -

- - - 4 0.7 - - - - - 4 0.7 - - - 2 0.3 - - - 3 0.5 - - - - 1 0.2 -

X2 = 13 X2 = 233 d.f. = 3 d.f. = 3 P < 0.005 p < 0.005



568 M. W. Thompson and E. Bandler

Table 4

Frequencies of Fingerprint Types in 125 Cases of Down's Syndrome

L5 L4 L3 L2 LI No. % No. % No. % No. % No. %

Whorl 22 17.6 34 27.2 11 8.8 9 7.2 20 16.0 Ubar Loop 97 77.6 81 64.8 111 88.8 112 89.6 100 80.0 Radial Loop 6 4.8 8 6.4 2 1.6 1 0.8 1 0.8 Arch - 2 1.6 1 0.8 3 2.4 4 3.2

125 100.0 125 100.0 125 100.0 125 100.0 125 100.0

R1 R2 R3 R4 R5 TOTAL No. % No. % No. % No. % No. % No. % 25 20.0 4 3.2 6 4.8 38 30.4 26 20.8 195 15.60 98 78.4 116 92.8 116 92.8 74 59.2 93 74.4 998 79.84 1 0.8 2 1.6 2 1.6 9 7.2 5 4.0 37 2.96 1 0.8 3 2.4 1 0.8 4 3.2 1 0.8 20 1.60

125 100.0 125 100.0 125 100.0 125 100.0 125 100.0 1250 100.00

Our method of classification, despite the loss of information en- tailed in ignoring digital variation, provides comparative data which may be of some practical assistance in the classification of particular sets of fingerprints as "normal" or "abnormal". This is important because dermatoglyphics are so widely used in the assessment of pheno- types associated with abnormal karyotypes. For example, ever since the demonstration of a high frequency of arch patterns in E trisomy (Uchida et al., 1962), some workers have assumed that the obverse is also true and that a high frequency of arches is an abnormal finding. On the contrary, on the basis of our observations it may be argued that it is less unusual to have no arches or many than to have only one or two. In other words, these data may allow a new interpretation of what constitutes an "unusual" set of fingerprints.

Acknowledgements

We are indebted to the late Dr. Norma Ford Walker for the use of some of the normal prints in her extensive collection, to Professor P. N. Corey and Mr. J. A. Hutton for computer analysis of the data, and to Miss L. Cook, Miss S. Mackintosh and Mrs. L. Wedge for their tech- nical assistance.

Received : 21 July , 1972. Revision received: 16 January, 1973.




Table 5

Frequencies of Fingerprint Types in 125 Cases of Down's Syndrome as Compared with Binomial Expectation

NUMBER OF WHORL UNLAR LOOP PATTERNS OF (qw = 0.1560) (qu = 0.7984) STATED TYPE

PER 10 Obs. Exp. Obs. Exp. FINGERS No. % No. % No. % No. %

0 58 46.4 22.93 18.3 3 2.4 - 1 17 13.6 42.38 33.9 1 0.8 - 2 19 15.2 35.25 28.2 - - 0.01 3 11 8.8 17.37 13.9 1 0.8 0.08 0.1 4 9 7.2 5.62 4.5 3 2.4 0.72 0.6 5 6 4.8 1.25 1.0 6 4.8 3.40 2.7 6 2 1.6 0.19 0.2 12 9.6 11.23 9.0 7 - 0.02 - 16 12.8 25.42 20.3 8 - 18 14.4 37.75 30.2 9 i 0.8 - - 26 20.8 33.22 26.6 10 2 1.6 - 39 31.2 13.16 10.5

X2 = 102 X2 = 73 d.f. = 4 d.f. = 4 p < 0.005 p < 0.005

RADIAL LOOP ARCH (qr = 0.0296) (q& = 0.0160)

Obs. Exp. Obs. Exp. No. % No. % No. % No. %

94 75.2 92.56 74.0 117 93.6 106.38 85.1 27 21.6 28.23 22.6 4 3.2 17.30 13.8 3 2.4 3.88 3.1 2 1.6 1.27 1.0 - - 0.32 0.3 1 0.8 0.05 - 1 0.8 0.02 - - - -

- - - 1 0.8 -

X2 = 0.0871 X2 = 8.3 d.f. = 1 d.f. = 1

0.90 > P > 0.75 p < 0.005



570 M. W. Thompson and E. Bandlet

Literature Cited

Cummins, H. and C. Midlo 1943 Finger Prints, Palms and Soles. An Introduc- tion to Dermatoglyphics. Blakiston, Philadelphia.

Holt, S. B. 1964 Finger-print patterns in mongolism. Ann. Hum. Genet. 27: 279-282.

1968 The Genetics of Dermal Ridges. Thomas, Springfield. Lu, К. H. 1968 An information and discriminant analysis of finger-print patterns

pertaining to identification of mongolism and mental retardation. Amer. J. Hum. Genet. 20: 24-43.

Penrose, L. S. 1968 Memorandum on Dermatoglyphic Nomenclature. Birth Defects Original Article Series, Vol. 4, No. 3. The National Foundation, New York.

Uchida, I. A., K. Patau and D. W. Smith 1962 Dermal patterns of Dx trisomy. Amer. J. Hum. Genet. 14: 345-352.

Walker, N. F. 1958 The use of dermal configurations in the diagnosis of mongolism. Ped. Clin. N. Amer., May, 531.



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