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13q33.2 deletion: a rare cause of ambiguous genitalia in a male newborn with growth restriction
Author(s) -
Andresen JH,
Aftimos S,
Doherty E,
Love DR,
Battin M
Publication year - 2010
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2010.01683.x
Subject(s) - haploinsufficiency , hypospadias , ambiguous genitalia , genitourinary system , medicine , genetics , disorders of sex development , microarray , gene , sex organ , retinoblastoma , biology , phenotype , gene expression
13q deletion is a rare cause of ambiguous genitalia in the male newborn, and can be associated with mental retardation of varying degree, retinoblastoma, and malformations of the brain, eye, genitourinary and gastrointestinal tract, depending on the level of the deletion. We present a male neonate with ambiguous genitalia and IUGR with a 13q33.2 deletion, and a paternal balanced translocation. Microarray analysis found the genes involved to be on chromosome 13 in the region 102989254bp–109214509bp. This deletion encompasses the EFNB2 gene, which has been implicated in genital malformations in 13q deletion cases. Conclusions: We find a link between haploinsufficiency of the EFNB2 gene and the presence of ambiguous genitalia and hypospadia in patients with a 13q.33 deletion. This work emphasizes the importance of early diagnosis of this condition due to the link with mental retardation and the need for follow up and management.