C. Orellana et al., Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features, CLIN GENET, 60(3), 2001, pp. 206-211
Citations number
22
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
In this report we present the clinical features and molecular and cytogenet
ic findings in a female with partial trisomy 14q. Molecular and cytogenetic
studies allowed us to determine that the extra 14q material (of paternal o
rigin) was translocated postzygotically onto the maternal X chromosome. Con
sequently, only the derivative X chromosome was inactivated.. although inac
tivation apparently did not spread over the entire chromosome 14q. This par
tial inactivation makes the present case unusual, giving rise to phenotypic
features absent in other patients with partial trisomy 14q, typically rest
ricted to the distal part of the chromosome.