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.

The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history.

Rodríguez L, Zollino M, Mansilla E, Martínez-Fernández ML, Pérez P, Murdolo M, Martínez-Frías ML

Estudio Colaborativo Español de Malformaciones Congénitas del Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain. laura@isciii.es

We report on the molecular cytogenetics studies in a healthy couple who had had three pregnancies which ended in a termination of pregnancy (TOP). In two of them, prenatal sonogram showed fetal dwarfism and in the third one, a chromosome alteration was found in the amniocentesis. A previous pregnancy ended in a healthy girl. A high-resolution G-band karyotype (550-850 bands), together with Fluorescence in situ Hybridization (FISH) techniques, detected in the father a 4p interstitial euchromatic duplication. This chromosome duplication appears to be a previously undescribed euchromatic variant (EV). We discuss the possibility that the 4p paternal EV could be involved in the clinical and genetic findings of the three TOPs.

Published 30 April 2007 in Am J Med Genet A, 143(9): 995-8.
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