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Familial chromosomal mosaicism, genetic aspects BY LILLIAN Y. F. HSU, KURT HIRSCHHORN,' ARTHUR GOLDSTEIN AND MARCELLO A. BARCINSKI Departmerzt of Pediatrics,Divisiion of Hedical Genetics and Department of Obstetrics and Qjnecology, Mount Sinai School of Medicine, New York, New York Familial occurrence of aneuploidy is rare and familial mosaicism is even rarer. We wish to report a family with chromosome mosaicism found in four siblings and to discuss the possible mechanisms for familial chromosomal mosaicism.The clinical findingsand their significance have been reported in detail (Goldstein et al. 1970) and will be only briefly reviewed in this paper. CASE REPORTS 1. The proband, AD 140121 (i.e. B.D. 14 January 1921) (Chicago Conference, 1966) is a 47-year-old Portuguese woman who presented with primary amenorrhoea,absence of secondary sex characteristics, and tall stature. The parents are second cousins and produced six sons (one of whom died in infancy and three daughters). There ww no history of miscarriage o stillbirth. r A right ovarian tumour was resected from the proposita 14 years ago. Physical examination revealed a maaive masculine appearing female (Pl. IA), 6 ft. 3 in. in height and 235 Ib. in weight. There was no breast development. Pubic and axillary hair were
Annals of Human Genetics – Wiley
Published: May 1, 1970
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