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Trisomy 1 in a clinically recognized pregnancy

✍ Scribed by Hanna, Julie Sanford; Shires, Patricia; Matile, Gerald

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 55 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970110)68:1<98::aid-ajmg20>3.0.co;2-i

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✦ Synopsis

Cytogenetic analysis of products of conception has identified trisomies for all human chromosomes except for chromosome 1. Presented here is a patient with clinical signs of pregnancy, including increasing hCG levels and evidence of a gestational sac on ultrasound. However, the pregnancy was lost between 8-9 weeks post-LMP with the diagnosis of a blighted ovum. Cytogenetic analysis of cultured chorionic villi demonstrated a 47,XY,؉1 chromosome complement in all cells. This is the first reported case of nonmosaic trisomy 1 in a clinically recognized human pregnancy.

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