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Familial trisomy 6p in mother and daughter
Author(s) -
Savarese Marco,
Grandone Anna,
Perone Lucia,
Blanco Francesca Del Vecchio,
De Luca Giuseppina,
Di Fruscio Giuseppina,
Fogu Giuseppina,
Piluso Giulio,
Perrone Laura,
del Giudice Emanuele Miraglia,
Nigro Vincenzo
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35928
Subject(s) - gene duplication , daughter , partial trisomy , trisomy , chromosomal translocation , phenotype , intellectual disability , genetics , tandem exon duplication , biology , karyotype , gene , evolutionary biology , chromosome
Several patients with partial trisomy 6p resulting from parental balanced translocations or from a de novo duplication or insertion have already been described. Here, we report on the first case of familial pure trisomy 6p as a result of interstitial tandem duplication. The patient, an 11‐year‐old female, presented with mild dysmorphic features, moderate intellectual disability with behavioral disturbances, immunodeficiency, and epilepsy. Conventional cytogenetic analysis showed a duplication of the 6p region in the patient and in her mother presenting with a partially overlapping phenotype. The rearrangement was confirmed and defined by molecular cytogenetic analysis, including FISH and array CGH analysis showing a gain of ∼13.8 Mb from 6p12.3 to 6p21.31. The phenotype of a pure partial trisomy 6p is extremely heterogeneous depending on the gene contents of the duplicated region. The clinical features of our patients have been compared with overlapping cases from the literature. © 2013 Wiley Periodicals, Inc.