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Article

Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22.

Prenatal diagnosis - 1 Jan 1997

de Pater J M, Schuring-Blom G H, van den Bogaard R, van der Sijs-Bos C J, Christiaens G C, Stoutenbeek P, Leschot N J

Abstract excerpt

We report on a case of generalized mosaicism for trisomy 22. At chorionic villus sampling (CVS) in the 37th week of pregnancy, a 47,XX,+22 karyotype was detected in all cells. The indication for CVS was severe unexplained symmetrical intrauterine growth retardation (IUGR) and a ventricular septal defect (VSD) was noted. In cultured cells from amniotic fluid taken simultaneously, only two out of ten clones were...

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Source

Identifiers

PMID: 9021833
DOI: 10.1002/(sici)1097-0223(199701)17:1<81::aid-pd29>3.0.co;2-v

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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