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Dermatoglyphic observations in a patient with trisomy 18
The ]ournal o[ Pediatrics June 1968
86 2 Brie[ clinical and laboratory observations
Dermatoglypbic observations in a patient with trisomy 18 Lucille J. Ross, M . D . * NEW
YORK,
N.
DERMATOOLYPHIC
Y.
CHANGES
have
been observed in three autosomal trisomy syndromes? In trisomy 18, a striking finding is a marked increase in arch patterns on the fingertips. When this observation was first made by Uchida, Patau, and Smith, e they suggested that further investigation of the syndrome might well show that there were additional dermatoglyphic peculiarities. Examination of the dermal patterns of an l l month-old girl with cytologically verified trisomy 18t led us to consider the possible significance of three such findings. Finger, palm, and foot prints of the patient were made by tile Faurot inkless methoda; the skin of these areas was also examined through a 7• magnifying glass. The baby had radial loops on both thumbs, an ulnar loop on the right fifth finger, and arches on the remaining seven fingertips. Skin ridging appeared, on inspection through the magnifying glass, appreciably shallower than normal on the fifth finger of the right hand, the fourth and fifth fingers of the left hand, the palms, and the hallucal areas of the soles. Only short, discrete areas of ridging were present on the hallucal areas; the usual long continuous ridges were absent, and there was no recognizable pattern. Since radial loops had been noted on only 0.2 per cent of the thumbs of a population of 5,0004 we were surprised to find them in our patient. To determine whether they had ~Vanderbilt Clinic, Presbyterian Hospital, 622 West 168th Street, N e w York, N. Y. 10032. "~The karyot3~plc analyses were tJer[ormed in cells derived from perit~heral Ieukocytes but not in cells [rom other tissue. Although no evidence *~f mosaicism was obtained, the possibility o[ mosaicism cannot be ruled out conclusively.
been present in other children with the syndrome, the literature was searched for instances of trisomy 17-18 (confirmed by chromosomal analysis, and excluding mosaicism and translocation), in which the patients had fewer than ten arches and the fingertip patterns were described as whorls, radial loops, ulnar loops, or arches. Reports of eleven such patients were located; their fingertip patterns are recorded in Table I. Four of the eleven had radial loops on their thumbs. This is of particular interest because of Walker's 5 observation of an increased prevalence of radial loop patterns on the fourth and fifth fingers in mongolism (trisomy 21 ). The shallowness of ridging and partial lack of pattern formation in the present patient may be significant, particularly in the light of two other case reports. Habedank G described an infant, the skin of whose fingertips was smooth and free of ridges. The fingerprint patterns of the left thumb and right fifth finger of the patient of Bartolozzi and co-workers 7 could not be determined because of hypoplasia of the skin ridges. A whorl pattern has not yet been reported in a patient with trisomy 17-18, so far as we are aware. (Whorls normally occur on a quarter of fingertips. 4) It appears that not only an atypical dermal configuration in an individual patient, but also an unusual distribution of normal fingerprint patterns in a group of patients, '~, '~ can be considered as a dermatoglyphic "abnormality." Detailed dermatoglyphic observations of patients with anomalies and of individuals included in surveys for congenital defects may uncover further deviations, especially of the second type; and may also lead to an improved understanding of the mechanisms of, and factors affecting, the development of skin ridge patterns. SUMMARY On the basis of a study of the dermal patterns on the fingertips of an infant with trisomy 18, and a review of cases reported in the literature, it is suggested that among the dermatoglyphic characteristics of this syn-
Volume 72 Number 6
Brief clinical and laboratory observations
863
T a b l e I. D e r m a l patterns, other t h a n arches, on the fingertips of patients with trisomy 17-18
Dermal pattern Fingers of right hand Fingers o[ left hand
f41'lNr
Source Patients of Uchida and colleagues2
,t
1 1 2 [ 3 1 4 1
U*
Wis. 34 Wis. 27 Wis. 19 Wis. 11 G.W. L.P.
U
U U U
R
U
U U
R U R
R
U
Patient of Hecht and colleagues (See J. PEmAT. 63: 605, 1963) Patient 3
R
Patients of La[ourcade and colleagues (See Ann, Pediat. 41: 24, 1965) Patient Patient Patient Patient
1 2 4 5
U
Present patient *U, Ulnar loop; R, radial loop.
drome m a y be a n increased frequency of radial loops on the t h u m b tips a n d a paucity of whorls on the fingertips. The chromosomal study of the patient was performed by Dr. Akira Morishima. We are grateful to him for permitting us to use the results of his study. The able editorial assistance of Miss Cyrille Gell is also gratefully acknowledged.
3. 4.
5. 6.
REFERENCES 1. Uchida, I. A., and Soltan, H. 12.: Evaluation of dermatoglyphics in medical genetics, Pediat. Clin. North America 10: 409, 1963. 2. Uchida, I. A., Patau, K., and Smith, D. W.:
7.
R R
R
U
U
U U
R
R
U
Dermal patterns of 18 and D1 trisomics, Am. J. Human Genet. 14: 345, 1962. Materials available from Faurot Inc., 299 Broadway, New York, N. Y. 10007. Cummins, H., and Midlo, C.: Finger prints, palms and soles, an introduction to dermatoglyphics, Philadelphia, 1943, The Blakiston Co., p. 67. Walker, N. F.: The use of dermal configurations in the diagnosis of mongolism, J. PEmAT. 50: 19, 1957. Habedank, M.: Die klinische Diagnose und Differential-diagnose der Trisomie 17/18, Ann. Paediat. 203: 428, 1964. Bartolozzi, G., Marianelli, L., Calandi, C., and Giannelli, F.: La trisomia 17-18. Descrizione di un caso e rassegna della letteratura, Minerva Pediat. 17: 481, 1965.
86 2 Brie[ clinical and laboratory observations
Dermatoglypbic observations in a patient with trisomy 18 Lucille J. Ross, M . D . * NEW
YORK,
N.
DERMATOOLYPHIC
Y.
CHANGES
have
been observed in three autosomal trisomy syndromes? In trisomy 18, a striking finding is a marked increase in arch patterns on the fingertips. When this observation was first made by Uchida, Patau, and Smith, e they suggested that further investigation of the syndrome might well show that there were additional dermatoglyphic peculiarities. Examination of the dermal patterns of an l l month-old girl with cytologically verified trisomy 18t led us to consider the possible significance of three such findings. Finger, palm, and foot prints of the patient were made by tile Faurot inkless methoda; the skin of these areas was also examined through a 7• magnifying glass. The baby had radial loops on both thumbs, an ulnar loop on the right fifth finger, and arches on the remaining seven fingertips. Skin ridging appeared, on inspection through the magnifying glass, appreciably shallower than normal on the fifth finger of the right hand, the fourth and fifth fingers of the left hand, the palms, and the hallucal areas of the soles. Only short, discrete areas of ridging were present on the hallucal areas; the usual long continuous ridges were absent, and there was no recognizable pattern. Since radial loops had been noted on only 0.2 per cent of the thumbs of a population of 5,0004 we were surprised to find them in our patient. To determine whether they had ~Vanderbilt Clinic, Presbyterian Hospital, 622 West 168th Street, N e w York, N. Y. 10032. "~The karyot3~plc analyses were tJer[ormed in cells derived from perit~heral Ieukocytes but not in cells [rom other tissue. Although no evidence *~f mosaicism was obtained, the possibility o[ mosaicism cannot be ruled out conclusively.
been present in other children with the syndrome, the literature was searched for instances of trisomy 17-18 (confirmed by chromosomal analysis, and excluding mosaicism and translocation), in which the patients had fewer than ten arches and the fingertip patterns were described as whorls, radial loops, ulnar loops, or arches. Reports of eleven such patients were located; their fingertip patterns are recorded in Table I. Four of the eleven had radial loops on their thumbs. This is of particular interest because of Walker's 5 observation of an increased prevalence of radial loop patterns on the fourth and fifth fingers in mongolism (trisomy 21 ). The shallowness of ridging and partial lack of pattern formation in the present patient may be significant, particularly in the light of two other case reports. Habedank G described an infant, the skin of whose fingertips was smooth and free of ridges. The fingerprint patterns of the left thumb and right fifth finger of the patient of Bartolozzi and co-workers 7 could not be determined because of hypoplasia of the skin ridges. A whorl pattern has not yet been reported in a patient with trisomy 17-18, so far as we are aware. (Whorls normally occur on a quarter of fingertips. 4) It appears that not only an atypical dermal configuration in an individual patient, but also an unusual distribution of normal fingerprint patterns in a group of patients, '~, '~ can be considered as a dermatoglyphic "abnormality." Detailed dermatoglyphic observations of patients with anomalies and of individuals included in surveys for congenital defects may uncover further deviations, especially of the second type; and may also lead to an improved understanding of the mechanisms of, and factors affecting, the development of skin ridge patterns. SUMMARY On the basis of a study of the dermal patterns on the fingertips of an infant with trisomy 18, and a review of cases reported in the literature, it is suggested that among the dermatoglyphic characteristics of this syn-
Volume 72 Number 6
Brief clinical and laboratory observations
863
T a b l e I. D e r m a l patterns, other t h a n arches, on the fingertips of patients with trisomy 17-18
Dermal pattern Fingers of right hand Fingers o[ left hand
f41'lNr
Source Patients of Uchida and colleagues2
,t
1 1 2 [ 3 1 4 1
U*
Wis. 34 Wis. 27 Wis. 19 Wis. 11 G.W. L.P.
U
U U U
R
U
U U
R U R
R
U
Patient of Hecht and colleagues (See J. PEmAT. 63: 605, 1963) Patient 3
R
Patients of La[ourcade and colleagues (See Ann, Pediat. 41: 24, 1965) Patient Patient Patient Patient
1 2 4 5
U
Present patient *U, Ulnar loop; R, radial loop.
drome m a y be a n increased frequency of radial loops on the t h u m b tips a n d a paucity of whorls on the fingertips. The chromosomal study of the patient was performed by Dr. Akira Morishima. We are grateful to him for permitting us to use the results of his study. The able editorial assistance of Miss Cyrille Gell is also gratefully acknowledged.
3. 4.
5. 6.
REFERENCES 1. Uchida, I. A., and Soltan, H. 12.: Evaluation of dermatoglyphics in medical genetics, Pediat. Clin. North America 10: 409, 1963. 2. Uchida, I. A., Patau, K., and Smith, D. W.:
7.
R R
R
U
U
U U
R
R
U
Dermal patterns of 18 and D1 trisomics, Am. J. Human Genet. 14: 345, 1962. Materials available from Faurot Inc., 299 Broadway, New York, N. Y. 10007. Cummins, H., and Midlo, C.: Finger prints, palms and soles, an introduction to dermatoglyphics, Philadelphia, 1943, The Blakiston Co., p. 67. Walker, N. F.: The use of dermal configurations in the diagnosis of mongolism, J. PEmAT. 50: 19, 1957. Habedank, M.: Die klinische Diagnose und Differential-diagnose der Trisomie 17/18, Ann. Paediat. 203: 428, 1964. Bartolozzi, G., Marianelli, L., Calandi, C., and Giannelli, F.: La trisomia 17-18. Descrizione di un caso e rassegna della letteratura, Minerva Pediat. 17: 481, 1965.