TRISOMY 16PTER TO 16Q12.1 AND MONOSOMY 22PTER TO 22Q11.2 RESULTING FROM ADJACENT-2 SEGREGATION OF A MATERNAL COMPLEX CHROMOSOME REARRANGEMENT

Authors
XU J CHERNOS J ROLAND B
Citation
J. Xu et al., TRISOMY 16PTER TO 16Q12.1 AND MONOSOMY 22PTER TO 22Q11.2 RESULTING FROM ADJACENT-2 SEGREGATION OF A MATERNAL COMPLEX CHROMOSOME REARRANGEMENT, American journal of medical genetics, 73(3), 1997, pp. 327-329
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
73
Issue
3
Year of publication
1997
Pages
327 - 329
Database
ISI
SICI code
0148-7299(1997)73:3<327:T1T1AM>2.0.ZU;2-U
Abstract
We report on a 16-week-old male fetus with partial trisomy 16 and part ial monosomy 22 resulting from 3:3 adjacent-2 segregation of a materna l balanced complex chromosome translocation involving chromosomes 5, 1 6, and 22. The karyotype of the 29-year-old phenotypically normal moth er was 46,XX,t(5;16;22)(q31.3;q12.1;q11.2). The karyotype of the fetus was 46,XY,der (5)t(5;16;22)(q31.3;q12.1;q11.2),+der(16 t(5;16;22)mat, -22. The fetus had multiple congenital anomalies, including bilateral cleft lip and palate. (C) 1997 Wiley-Liss, Inc.