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Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations
Author(s) -
Cavani S.,
Perfumo C.,
Faravelli F.,
Malacarne M.,
Sogliani M.,
Piombo G.,
Zerega G.,
Zucca M.,
Dagna Bricarelli F.,
Pierluigi M.
Publication year - 2003
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.678
Subject(s) - chromosomal translocation , monosomy , trisomy , karyotype , fetus , aunt , partial trisomy , biology , genetics , lissencephaly , prenatal diagnosis , pregnancy , chromosome , sociology , gene , anthropology
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.