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Isochromosome 18p in a mother and her child

✍ Scribed by Abeliovich, Dvorah ;Dagan, Judith ;Levy, Alina ;Steinberg, Avraham ;Zlotogora, Joel

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 184 KB
Volume: 46
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320460409

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✦ Synopsis

Abstract

We present a familial case of isochromosome 18p [i(18p)] as a supernumerary chromosome. The mother, who is a mosaic for i(18p) with partial tetrasomy 18p syndrome, transmitted the isochromosome to her only child. The child has the full syndrome of tetrasomy 18p. This is the first case of mosaicism i(18p) in an adult patient with clinical manifestations. © 1993 Wiley‐Liss, Inc.

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