Amniocentesis Research Today is a free monthly online journal that collates and summarizes the latest research about Amniocentesis, including details on pregnancy, prenatal screening, diagnosis, risks, down syndrome.

Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype.

Goumy C, Beaufrère AM, Francannet C, Tchirkov A, Laurichesse Delmas H, Geissler F, Lemery D, Dechelotte PJ, Vago P

Cytogénétique Médicale, CHU/Faculté de Médecine Clermont-Ferrand, France.

We described a new case of mosaic isochromosome 20q revealed by amniocentesis. The propositus presented with craniofacial dysmorphism, clubfeet, and vertebral abnormalities. A 46,XX,i(20)(q10)[14]/46,XX[1] karyotype was confirmed by FISH on cultured cells. The pregnancy was terminated. From review of literature, fetus with mosaic isochromosome 20q identified on amniocentesis are most likely to be phenotypically and cytogenetically normal after birth. So we performed CGH and array-CGH to exclude another possible imbalance. We discuss here the possible relation between this chromosomal abnormality and the abnormal phenotype.

Published 3 August 2005 in Prenat Diagn, 25(8): 653-5.
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