CLINICAL AND CYTOGENETIC STUDIES IN A LARGE (4-8) TRANSLOCATION FAMILY WITH PRENATAL AND POSTNATAL WOLF SYNDROME
- 1 January 1984
- journal article
- research article
- Vol. 27 (4) , 224-229
Abstract
Partial deletion of 4p (Wolf syndrome) is reported in 2 cases resulting from paternal balanced t(4;8)(p163;p231). One of them was diagnosed prenatally and aborted. Autopsy revealed dysmorphic face and malformed heart and kidneys. The mentally retarded sister, had no clinical signs of internal malformations, only slightly dysmorphic appearance. Loss of the terminal segment of 4p(4p163) seems sufficient to produce the clinical entity of Wolf syndrome, and partial trisomy of the short arm of chromosome 8 did not mask the 4p- phenotype. Segregation analysis showed risk figures of .apprx. 15% for a malformed child comparable to previously given figures concerning the outcome of autosomal reciprocal translocations.This publication has 12 references indexed in Scilit:
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