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De novo 13q12.3–q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A‐T like phenotype
Author(s) -
Cirillo Emilia,
Romano Rosa,
Romano Alfonso,
Giardino Giuliana,
Durandy Anne,
Nitsch Lucio,
Genesio Rita,
Di Gregorio Eleonora,
Cavalieri Simona,
Abate Giovanna,
Del Vecchio Luigi,
Brusco Alfredo,
Pignata Claudio
Publication year - 2012
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.35556
Subject(s) - ataxia telangiectasia , biology , ataxia , cd3 , nijmegen breakage syndrome , phenotype , immunology , microbiology and biotechnology , dysmetria , chromosome , gene , genetics , cd8 , immune system , neuroscience , dna , dna damage
We report on a child with a de novo deletion of approximately 12 Mb detected through array comparative genomic hybridization (CGH). The deletion involved chromosome bands 13q12.3–13q14.11 and determined the loss of ≥50 genes. A second deletion on chromosome 12p11.3p11.22 of 43–167 kb, including about 12 genes, was unlikely of clinical relevance because inherited from the asymptomatic father. The child had developmental delay, dysmorphisms, and many features reminiscent of ataxia‐telangiectasia (A‐T), as cerebellar ataxia, oculocutaneus telangiectasia, and recurrent upper airway infections. Atraumatic fractures of the metatarsus were noted. Moreover, this is a rare case of 13q deletion syndrome associated with peripheral blood white cells radiosensitivity to bleomycin, reminiscent of what previously reported on X‐ray hypersensitivity of fibroblasts from patients with alterations of this chromosome. The immunological evaluation revealed increased IgM serum levels and a low proliferative response to mitogens, PHA, and CD3 cross‐linking (CD3 XL). After 12 years of age only a mild dysmetria persisted, while the proliferative response to mitogens became normal by 9 years of age. © 2012 Wiley Periodicals, Inc.