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Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations by S. Cavani; C. Perfumo; F. Faravelli; M. Malacarne; M. Sogliani; G. Piombo; G. Zerega; M. Zucca; F. Dagna Bricarelli; M. Pierluigi is a Medicine article available to read on EtoBox.
What is Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations about?
## 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.
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- Author
- S. Cavani; C. Perfumo; F. Faravelli; M. Malacarne; M. Sogliani; G. Piombo; G. Zerega; M. Zucca; F. Dagna Bricarelli; M. Pierluigi
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)
- Published
- 2003
- Language
- EN
- Field
- Medicine (Health Sciences)