Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.
Am J Med Genet A
; 164A(7): 1789-94, 2014 Jul.
Article
en En
| MEDLINE
| ID: mdl-24700699
ABSTRACT
Interstitial deletions of the distal part of chromosome 2p seem to be rarely identified or reported to date, only nine distinct patients have been published. The last three patients were diagnosed with the use of more recent molecular karyotyping technology (SNP array). We report on the natural history of an 8-year-old boy with dysmorphic features, postnatal overgrowth, microcephaly, generalized hypotonia, and global developmental delay. The diagnosis was accomplished by SNP array investigation that led to the identification of a de novo 7.4 Mb deletion of 2p23.2-p24.1. The present patient also developed a nonsyndromic auditory neuropathy. Since the deletion encompassed the OTOF gene, this haploinsufficiency suggests second allele sequencing as a possible cause (DFNB9). We describe the phenotype of the patient and review reports in patients with del 2p23 subsequent to the advent of the genomic era. At the time of identification of "new" micro- deletion and -duplication syndromes, the present report adds to the description of phenotype in patients with del(2)p(23.2;24.1) and the 2p23.2 region in particular.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Cromosomas Humanos Par 2
/
Deleción Cromosómica
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Trastornos de los Cromosomas
/
Estudios de Asociación Genética
/
Genotipo
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Bélgica