Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10Reportar como inadecuado




Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10 - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Molecular Cytogenetics

, 4:28

First Online: 05 December 2011Received: 23 November 2011Accepted: 05 December 2011

Abstract

BackgroundGenotype-phenotype correlations for chromosomal imbalances are often limited by overlapping effects of partial trisomy and monosomy resulting from unbalanced translocations and by poor resolution of banding analysis for breakpoint designation. Here we report the clinical features of isolated partial trisomy 7q21.2 to 7q31.31 without overlapping phenotypic effects of partial monosomy in an 8 years old girl. The breakpoints of the unbalanced rearranged chromosome 7 could be defined precisely by array-CGH and a further imbalance could be excluded. The breakpoints of the balanced rearranged chromosomes 9 and 10 were identified by microdissection of fluorescence labelled derivative chromosomes 9 and 10.

ResultsThe proband-s mother showed a complex balanced translocation t9;10p13;q23 with insertion of 7q21.2-31.31 at the translocation breakpoint at 9p13. The daughter inherited the rearranged chromosomes 9 and 10 but the normal chromosome 7 from her mother, resulting in partial trisomy 7q21.2 to 7q31.31. The phenotype of the patient consisted of marked developmental retardation, facial dysmorphism, short stature, strabism, and hyperextensible metacarpophalangeal joints.

DiscussionFor better understanding of genotype-phenotype correlation a new classification of 7q duplications which will be based on findings of molecular karyotyping is needed. Therefore, the description of well-defined patients is valuable. This case shows that FISH-microdissection is of great benefit for precise breakpoint designation in balanced rearrangements.

Keywordschromosome microdissection array-CGH developmental delay hypotonia speech-delay short stature epicanthus partial trisomy 7q21.2-7q31.31 Electronic supplementary materialThe online version of this article doi:10.1186-1755-8166-4-28 contains supplementary material, which is available to authorized users.

Jörg Weimer, Simone Heidemann contributed equally to this work.

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Autor: Jörg Weimer - Simone Heidemann - Constantin S von Kaisenberg - Werner Grote - Norbert Arnold - Susanne Bens - Almuth Cali

Fuente: https://link.springer.com/







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