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.

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature.

Malan V, Martinovic J, Sanlaville D, Caillat S, Waill MC, Ganne ML, Tantau J, Attie-Bitach T, Vekemans M, Morichon-Delvallez N

Service de Cytogénétique et d'Embryologie, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.

BACKGROUND: Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed. METHODS AND RESULTS: Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirmed that the deletion included the 5q15-21.3 region and was 14 Mb in size. Therefore, the karyotype was: 46,XY,del(5)(q15q21.3). In addition, analysis of polymorphic DNA markers showed that the deletion was of paternal origin. CONCLUSIONS: The pregnancy was terminated at 34 weeks' gestation. At autopsy, the fetus displayed dysmorphic features, thin limbs and renal abnormalities. The clinical findings observed in the fetus as well as in 20 cases reported previously allowed us to further delineate the phenotype of such interstitial 5q15q21.3 deletions.

Published 6 March 2006 in Prenat Diagn, 26(3): 231-8.
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