Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features

Authors: Orellana, C1; Martínez, F1; Badía, L1; Millán, JM1; Montero, MR1; Andrés, J2; Prieto, F1

Source: Clinical Genetics, Volume 60, Number 3, September 2001 , pp. 206-211(6)

Publisher: Blackwell Publishing

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Abstract:

In this report we present the clinical features and molecular and cytogenetic findings in a female with partial trisomy 14q. Molecular and cytogenetic studies allowed us to determine that the extra 14q material (of paternal origin) was translocated postzygotically onto the maternal X chromosome. Consequently, only the derivative X chromosome was inactivated, although inactivation apparently did not spread over the entire chromosome 14q. This partial inactivation makes the present case unusual, giving rise to phenotypic features absent in other patients with partial trisomy 14q, typically restricted to the distal part of the chromosome.

Keywords: dismorphic features; fluorescence in situ hybridization (FISH); translocation; trisomy 14q

Document Type: Research article

DOI: 10.1034/j.1399-0004.2001.600306.x

Affiliations: 1: Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, 2: Servicio de Pediatría, Hospital de Sagunto, Valencia, Spain

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