Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations |
| |
Authors: | S Cavani C Perfumo F Faravelli M Malacarne M Sogliani G Piombo G Zerega M Zucca F Dagna Bricarelli M Pierluigi |
| |
Institution: | 1. Laboratorio di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy;2. Divisione di Neonatologia, Istituto G. Gaslini, Genova, Italy |
| |
Abstract: | Here we describe a foetus with intrauterine growth retardation (IUGR), cerebral malformations and a 46,XY,der(1),t(1;6)(p36.3;q25.2) karyotype owing to a familial cryptic translocation segregating in three generations. A balanced translocation was present in the mother, the maternal uncle, the aunt and the grandmother. A female first cousin with dysmorphisms, hydrocephalus and mental retardation was a carrier of a partial trisomy 1p and a partial monosomy 6q. Multiple miscarriages were present in the family pedigree. Parents of the foetus had three other pregnancies: a male with a balanced translocation, and two foetuses with 1p36.3–pter monosomy and 6q25.2–qter trisomy. Copyright © 2003 John Wiley & Sons, Ltd. |
| |
Keywords: | monosomy 1p trisomy 6q prenatal diagnosis FISH cerebral malformations |
|
|