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- Title
Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22.
- Authors
DE PATER, J. M.; SCHURING-BLOM, G. H.; VAN DEN BOGAARD, R.; VAN DER SIJS-BOS, C. J. M.; CHRISTIAENS, G. C. M. L.; STOUTENBEEK, Ph.; LESCHOT, N. J.; van der Sijs-Bos, C J; Christiaens, G C; Stoutenbeek, P
- Abstract
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 trisomic. At term, a growth-retarded girl with mild dysmorphic features was born. Lymphocytes showed a normal 46,XX[50] karyotype; both chromosomes 22 were maternal in origin (maternal uniparental disomy). Investigation of the placenta post-delivery using fluorescence in situ hybridization showed a low presence of trisomy 22 cells in only one out of 14 biopsies. In cultured fibroblasts of skin tissue, a mosaic 47,XX,+22[7]/46,XX[25] was observed. Clinical follow-up is given up to 19 months.
- Publication
Prenatal Diagnosis, 1997, Vol 17, Issue 1, p81
- ISSN
0197-3851
- Publication type
journal article
- DOI
10.1002/(SICI)1097-0223(199701)17:1<81::AID-PD29>3.0.CO;2-V