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MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 22 IN A CHILD WITH GENERALIZED MOSAICISM FOR TRISOMY 22

✍ Scribed by J. M. DE PATER; G. H. SCHURING-BLOM; R. VAN DEN BOGAARD; C. J. M. VAN DER SIJS-BOS; G. C. M. L. CHRISTIAENS; Ph. STOUTENBEEK; N. J. LESCHOT

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 634 KB
Volume: 17
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199701)17:1<81::aid-pd29>3.0.co;2-v

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✦ Synopsis

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.

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