MOSAICISM FOR A TANDEM DUPLICATION DUP(1)(Q12Q22) IN AN 18-YEAR-OLD FEMALE

Authors
DESILVA D MASSIE D DRUMMOND J COUZIN D DEAN JCS
Citation
D. Desilva et al., MOSAICISM FOR A TANDEM DUPLICATION DUP(1)(Q12Q22) IN AN 18-YEAR-OLD FEMALE, Journal of Medical Genetics, 35(7), 1998, pp. 600-603
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
35
Issue
7
Year of publication
1998
Pages
600 - 603
Database
ISI
SICI code
0022-2593(1998)35:7<600:MFATDD>2.0.ZU;2-8
Abstract
The clinical features and cytogenetic results of an 18 year old mental ly handicapped female found to be a mosaic for a tandem duplication of chromosome 1 (46,XX, dup(1)(q12q22)/46,XX) are reported. The case is compared with the three previously described cases and possible mechan isms for the origin of the duplication are discussed. This patient was not found to have features of Proteus syndrome which was previously r eported in a subject mosaic for a tandem duplication involving chromos ome (1)(q11q25).