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A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p
Author(s) -
Uehara S.,
Akai Y.,
Takeyama Y.,
Okamura K.,
Takabayashi T.,
Yajima A.,
Natsui M.,
Nakai H.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb04422.x
Subject(s) - biology , chromosome , long arm , genetics , psychomotor retardation , anatomy , medicine , pathology , gene , alternative medicine
This is a case report on an infant with de novo terminal deletions on the long arm of chromosome 14 and on the short arm of chromosome 20 [46, XX, del(14)(q32)del(20)(p11)]. Examination revealed that the infant had a peculiar face, a cleft and high palate, abnormal dentition, butterfly‐like vertebral defects, finger anomalies, a simian line on the left hand, talipes equinovarus, deep plantar furrows, abnormally high values of alkali phosphatase and lactate dehydrogenase, mild anemia and psychomotor retardation. Comparing the present case with previously reported cases of a single deletion on chromosome 14q or chromosome 20p, the infant showed some symptomatic and dysmorphic features of both deletions.