13q33.2 deletion: a rare cause of ambiguous genitalia in a male newborn with growth restriction

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 w...

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Bibliographic Details
Published in:Acta Paediatrica 2010-05, Vol.99 (5), p.784-786
Main Authors: Andresen, JH, Aftimos, S, Doherty, E, Love, DR, Battin, M
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Ambiguous
Biological and medical sciences
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 13
Congenital Abnormalities - genetics
Fetal Growth Retardation - genetics
General aspects
Genetic
Genitalia
Genitalia, Male - abnormalities
Humans
Infant, Newborn
Intellectual Disability - genetics
Karyotyping
Male
Medical sciences
Microarray Analysis
Neonatal
Translocation, Genetic
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Summary: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.
ISSN:0803-5253
1651-2227
DOI:10.1111/j.1651-2227.2010.01683.x