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Trisomy 16pter to 16q12.1 and monosomy 22pter to 22q11.2 resulting from adjacent-2 segregation of a maternal complex chromosome rearrangement

✍ Scribed by Xu, Jie; Chernos, Judy; Roland, Birgitte

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 16 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971219)73:3<327::aid-ajmg18>3.0.co;2-l

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✦ Synopsis

We report on a 16-week-old male fetus with partial trisomy 16 and partial monosomy 22 resulting from 3:3 adjacent-2 segregation of a maternal balanced complex chromosome translocation involving chromosomes 5, 16, and 22. The karyotype of the 29-year-old p h e n o t y p i c a l l y n o r m a l m o t h e r w a s 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,

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