J. ment. Defic. Res. (1984) 28, 275-280

DERMATOGLYPHIC ANALYSES OF 3 2 PARENTSOF PRADER-WILLI SYNDROME INDIVIDUALS

ARABELLA SMITH and EUNICE SIMPSON

Cytogenetic Unit, Oliver Latham Laboratory, Department of Health, NSW, PO Box 53,North Ryde, 2113, Australia

I N T R O D U C T I O N

In 1982 we reported on the dermatoglyphic findings of 24 individuals with thePrader-Willi syndrome (PWS) (Smith & Simpson, 1982). The findings showed thatthere were no particular dermatoglyphic distortions characteristic ofthe PWS and thissupported previous data (Holt, 1975). However, these individuals generally had adeficit of fingertip loop patterns, with an increase in whorls in males and whorls andarches in females and the main line A terminated low in both sexes. That group ofPWS individuals did not have increases in the frequency of hypothenar patterns orposition of axial triradius which had previously been reported in individual cases(Gellis & Feingold, 1967).

We present here the dermatoglyphic features of 32 of the parents of these PWSprobands, so that this work can be seen as an extension of the previous study. Wewanted to see whether the subtle changes in the finger and palmar dermatoglyphicshad any genetic basis.

METHODS

The patient sample has been described (Smith & Simpson, 1982) and 32 parents (22mothers, 10 fathers) of these patients were available for study. Their ages ranged from22 to 56 years. All were normal, healthy adults. In only one case (mother) were thehands considered to be short and pudgy.

The dermatoglyphics were performed using the same standard procedures as wereused on the probands and the same Australasian control data has been used.Nomenclature followed that of Schaumann & Alter (1976).

Statistical analysis of the data was undertaken using Student's l-test, x̂ test andcorrelation tests as applicable (Bishop, 1978)

RESULTS

Fingertip dermatoglyphic analyses

Finger patterns for 22 mothers and 10 fathers are shown in Table 1. The frequency ofpattern types is shown in Table 2, comparing fathers, PWS males and control males

Received 23 November 1983275

276 ARABELLA SMITH and EUNICE SIMPSON

Table 1. Fingertip patterns and TFRC

Mother12345678910111213141516171819202122

Father12345678910

VLLLLLAWLLLLWWLLLWLLLLL

LLLLLLLAAL

IVWwLWLALLLLLWWWWLWLLLLL

WLLLWWLAAL

LeftIIIWLLTLAWLLLLWLLWLWLLLLL

WLLLWLLAAL

//L̂LWL"̂LAUWLLLLWLWUWLWATL

WLLLWTTAAL

/LLLLLAWWLWWLWLTLWLLLAL

LLLLWLLTAL

ILWLWLAWWLWWLWWLWWLALLW

WLWLWLLLAW

//WWLWWALWLLLWWLUWWWLAL'L̂

WAWTWLL"'TAL

RightIIIWLLWLALLLLLWWLLLWLLLLL

LALLLLLLAL

IVWLLWLAWLLWLWWLWLWLLLWW

WLLWWWLTLW

VwwLLLALLLLLWWLLLWLLLLL

LLLLWLLTTL

TFRC1531471361171090

15017710418114918412815217411722513511256

no143

1839312910117713569103

154

Mothers 1-10 are the spouses of fathers 1-10 in numerical order. L = ulnar loop; L"' = radialloop; T = tented arch; A = simple arch; W = including concentric, spiral, double loop,accessory, central pocket and seam whorls.

and mothers, PWS females and control females. Among the fathers there was adecrease in the frequency of loops as compared with controls (P<0.02) which wascompensated for by an increase in arches (P<0.01), the whorl frequency being thesame in both groups. The male PWS patients showed the same deficit of looppatterns, but this was compensated for by an increase in whorls. Due to the highfrequency of arches, the fathers had a low TFRC. The mothers also showed a deficitof loops but barely at borderline significance and not as marked as in the PWSfemales. Whorls were slightly increased in the mothers compared to controls, to the

w212240

3223.432

28.422.836

Total fingers

100'500140

220500100

3201000240

P R A D E R - W I L L I SYNDROME 277

Table 2. Per cent frequency of finger pattern types

A LMales

Fathers 22 57Controls 3 75PWS 3 57

FemalesMothers 7.5 60.5Controls 4.6 72PWS 14 54

Pooled dataParents 15.3 59.3Controls 3.8 73.4PWS 8.5 55.5

A, L, W include all forms of arches, loops and whorls respectively.

same extent as the increase in whorls in the PWS patients, while the arches wereincreased to a much less extent compared with the PWS patients and not significantlyincreased when compared with the controls.

If we consider the decrease in ulnar loops as the essential phenomenon, as itoccurred equally in both sexes of PWS individuals, the data from mothers and fatherscan be combined. This is shown in Table 2 and compared with pooled control andpooled PWS data. The decrease in loops of the parents compared with controls isevident and is significant {P> 0.05). The decrease in loops in the parents and PWSoffspring is of the same magnitude.

Total finger ridge count (TFRC)

There were 10 parent-PWS child pairs available from the total data for the assessmentof TFRC. The TFRC of the fathers and mothers were added and divided by 2 for amid-parent TFRC figure. The mean mid-parent TFRC was 108 ± s.d. 33.10 andthe mean TFRC of the PWS offspring was 118 ± s.d. 45.54. Comparison of the means(using Student's f-test) showed no significant difference between them (P = 0.5).The coefficient of correlation (r) for analysis of the 10 pairs, was 0.76 showing apositive linear correlation between the pairs significant at P> 0.01 level. The slope ofthe regression line was y = 1.04x + 5.7.

Palmar dermatoglyphic analyses

The palmar formulae of the 32 parents are shown in Table 3 and the frequency ofsome of the trends compared with controls and PWS patients in Table 4. The fathersshowed an increased frequency of hypothenar patterns on both left and right palmcompared with controls (P<0.05) and in this respect differed significantly from theirmale PWS offspring. Similarly, they showed a lowered incidence of normal axial

278 ARABELLA SMITH and EUNICE SIMPSON

Table 3, Palmar formulae of 32 parents of PWS subjects

Mothers12345678910111213141516171819202122

Fathers123456789

10

Left

11/9,9.5'.5'.-t-A^A^0.L<',L''.11.9.7.4._t_A^A^O,L'',O,

lI,9,7,5',-t-A7A^A^O,L'',O,ll,9,7.3,-t-A^A^O,L'',O,

ll/lI.9,7,4,-t-A^A^O,L'',L'',9,X,5",3,-t-A",A'*,O,T,O,

9,x,5",2.-t'"-t"-W'",A^O,T,O,9,x,5",2,-t-A^A^O,T,O,

ll,9,7,5',-t-L'',A^O.V,O,9,7,5',I,-t-t"'-L",A',O,O,O,ll/ll,9,7,4,-t-A^A^O,L'',L'',

9,7,5'.l.-t-L^A^O.O,L''.9,7,5',l.-t-A^A^O,O,L'',9,0,5",5',-t-A".A^0,0,0,lI,x,7,4,-t'-L^A^O,T,O,

lL0,7,5'/ll,-t-L^A',L'^,O,O,7,5",5',4^-t-t'"-L^A^O,O,L'',

11.9.7.4._t_A^A^O.L'',O.lI,7,7,5',-t'-A"/A^A'',O,O,L'',7,5",5',3,-t'-L^A^O,O,L<',7.5",5'.3,-t-L^A^O,O,L'',

ll,7,7,4,-t-A",V,O,O,L'',9,5",5',4^-t-L^A^O,O,L'',9.7.5',4,-t-A^A^0,0,L'',

ll,9,7,4,-t-t'-t"'-L7L".A^O.L''.O,lI.5".4.3.-t-A",A7V.O,O,L'',

lI,9.7,4,-t"-A'=.A^O,L'',O.9,7,5",5',-t-t"'-W,A^O,O,O,7,5".5".4/4.t-A^A^L'',V,L'',ll,7,7,5'.-t-A^A^L'',O,L'',

9.9.5".4.-t-t"-L",A^O,L'',O,

7,5",5',4,-t-L^A^O,O,L'',ll,9,7,4,-t-A^A^O,L'',O,11.9.7.4._t-A^A^O,L''.O,ll,9,7,4.-t-A^A^O,L'*,O,

ll/lI,9,7,4,-t-A^A^O,L^L'',11.9.7.4.-t-A",A^O.L''.O.

ll,7,9,2,-t'"-t"-W'",A^O,L'',O,9,7,5".3.-t-A^A^O.O.L''.lI,9,7,4,-t-A",A^O,L'*,O,lI,ll,9,4,-t-L^A^O,V,O,

9,9,5',4,-t-A".A'.O,LA'.O.ll/lI.9/9.7.4/4-t-A"/A^A7V.L'',L''.L''.

9.7,5",3,-t-A^A^O,L'',O,ll,7,7.3,-t-A^A^O,O.L''.^,o,7,5',-t-A^A^o,o,o,

11.9,9,5',-t'-L^A^O,L'',O,ll,0,7,5",-t-L^A^O,O,V,7,5",5',4,-t-A^A^O,O.L'',11.7,7,4,-t-A^A^O,O,L'',

ll,9,7,4,-t'-A7A^A',O,L'',O,11,7,5',I,-t'-A7A'=.A^0,0,L'',

9.7.5".4._t-L^A^O,O,L'',

11.9.7.4._t_A^A^O,V,O,11.9.7.4._t_L^A^O,L'',O,11.9,7,4,-t-A^A^O,L'',O,

11.9.7,5'.-t-t'-t"'-L7L^A^O,L^O,7.511 4 3 _t_A".A^O,O,L''.

lI,lI,9,5',-t"-A^A^O,L'',O,9,X,5",4,-t-t"-W,A^O,V,O,

9,7,5",ll/5'-t-A".A^L'',0.L'',11,9,7,ll/5'.-t-A^A^L'',L'',0,9.9.5".4._t_t"_L",A',O.L'',O.

triradii (P<0.05) which was again different to their offspring. The mothers showednormal frequency of hypotbenar (left and right) patterns and normal axial triradii, inwbich they were similar to their PWS daughters. In neither fathers nor mothers wasthere an increase in the number of mainline A terminations in the thenar area, as hadpreviously been found in the left palm of PWS males. Analysis of the data for lowML A terminations (1+2+3-Tab le 4) showed the mothers to have figuresintermediate between controls and their PWS offspring, while no such pattern wasseen in the fathers whose MLA terminations were the same or less than the controlmales.

P R A D E R - W I L L I S Y N D R O M E 279

Table 4. Per cent frequency of some palmar traits in PWS parents, PWS subjects andAustralian controls

MalesFathersControlsPWS

FemalesMothersControlsPWS

HypothenarPatterns

Left

402523

414060

Right

402814

273240

MLA term.in thenar/1/

Left

06

30

13.61130

Right

047

4.50

20

MLA term.1+2+3

Left

103253.8

413160

Right

106

40

236

40

Normalt*

607881.5

72.76870

Totalpalms

20200

27

4420020

*Left and right combined as there was no statistically significant bimanual differences in thecontrols. Term. = Termination.

DISCUSSION

Dermal ridge differentiation begins early in fetal development and it has beenestablished that the critical period of ridge formation begins when the fetus is about 3months of age (Holt, 1968). Schaumann & Alter (1976) have discussed in detail theembryogenesis of epidermal ridges and a recent report on the fetal dermatoglyphics of24 human embryos showed well-developed dermatoglyphic parameters at 22 weeksgestation (Katznelson & Goldman, 1982). Both environmental and genetic factorsoperate during this developmental period and dermatoglyphic studies of families havebeen performed to estimate the genetic component (Singh 1969).

We have examined the dermatoglyphics of 32 normal parents of known PWSsubjects and compared the results with the PWS data and Australian control data.The parents did not show any features which were outstandingly different from eithertheir PWS offspring or the Australian controls but there were alterations in thefrequencies of certain characteristics, particularly among the fathers.

The parents had similar fingertip pattern distributions to their PWS offspring,namely a decrease in ulnar loops and an increase in whorls and arches. These changeswere statistically significant when compared with controls. Although less marked thanin the PWS cases and generally intermediate between controls and PWS, theindication is that PWS have these patterns because their parents have them, i.e. theyare inherited. This was supported by the data from analysis of the TFRC. Thestatistically significant positive correlation of this data confirmed polygenic inheri-tance. We cannot say, however, whether PWS is more likely to occur in offspring ofparents with these fingertip patterns or whether the genetic factors leading to PWSalso lead to decreased fingertip loops.

Analysis of the palmar data was also undertaken. Main line A terminating in thethenar area of the parents was not a common occurrence. We found in the study of theprobands that MLA termination in thenar/li area was significantly more frequent in

280 ARABELLA SMITH and EUNICE SIMPSON

male PWS patients than in control males. If other studies can demonstrate this to be areal phenomenon then it occurs during the development of the main lines of the handsand is not an inherited characteristic. Also from the data on low MLA terminations itcan be seen that the parents as a whole and the males in particular did not show atendency towards low MLA terminations, as their PWS offspring did.

In the palms of the fathers, there was an increased frequency of hypothenarpatterns and high-axial triradius, which was not inherited by their PWS offspring.Combine this with the fingertip alterations and there is the suggestion of increaseddermatoglyphic anomalies in the fathers of PWS individuals. This needs to beconfirmed by other studies, as our results are based on small numbers and may nothave general applicability (although statistically significant). Such studies would bewelcome, as these factors may interact in some way with paternal gametogenesis, aswas suggested by Butler & Palmer (1983) in a study ofthe chromosome 15 from PWSparents,

S U M M A R Y

Dermatoglyphic analyses were performed on 22 mothers and 10 fathers of 24 PWSindividuals (32 normal relatives). The frequency of fingertip patterns in the parentswas the same as in their PWS offspring with respect to a decrease in ulnar loops, andthis decrease was significant when compared with controls (P> 0,01), It was moremarked in the fathers than in the mothers. The fingertip arches and whorls were moreevenly redistributed in the parents than in their PWS offspring. The TFRC of theparents showed a positive correlation with the TFRC ofthe PWS offspring (P<0.01).These data indicate heritability of the fingertip dermatoglyphics. No heritable traitswere found in the palmar dermatoglyphic configurations. The fathers showed palmaranomalies greater than in control males (P<0,05)

REFERENCES

BISHOP ON (1978) Statistics for Biology. Edinburgh: Longmans, Green & Co,BUTLER MG & PALMER C G (1983) Parental origin of Chromosome 15 deletion in Prader-Willi

syndrome. Lancet i, 1285,GELLIS S E & FEINGOLD M (1967) Prader-Willi syndrome. In Atlas of Mental Retardation

Syndromes, p. 124. U.S. Dept. of Health, Education and Welfare.HOLT S (1968) The Genetics of Dermal Ridges. Springfield, Illinois: Charles C. Thomas.HOLT S (1975) Dermatoglyphics in Prader-Willi syndrome. J. ment. Defic. Res. 19, 245,KATZNELSON M B - M & GOLDMAN B (1982) Fetal dermatoglyphics Clin. Genet. 21, 237,SCHAUMANN B & ALTER M (1976) Dermatoglyphics in Medical Disorders. New York:

Springer-Verlag,SINGH S (1969) Studies in dermatoglyphics. Inheritance, racial differences and variation in

physical and mental abnormalities, Ph,D, thesis. University of NSW, School of HumanGenetics,

SMITH A & SIMPSON E (1982) Dermatoglyphic analyses of 24 individuals with the Prader-Willisyndrome, J. ment. Defic. Res. 26, 91.