Xq21.1q21.31 Duplication in Two Male Siblings

Abstract

Despite the increased use of array comparative genomic hybridisation, duplications of Xq remain rarely reported in the literature. Xq21.1q21.31 duplication has previously been reported only once in a boy with features of Prader Willi syndrome (PWS). We report 2 malesiblings with maternally inherited duplication of Xq21.1q21.31 who demonstrate a variable phenotype. The proband has Prader Willi-like features such as global developmental delay, autism, obesity, short hands, and small genitalia with a history of food seeking behaviour, while his younger brother has isolated speech delay with some autistic features under evaluation. Both siblings have features such as bitemporal narrowing and small hands. It is therefore likely that the phenotype of duplications in this region is broader than PWS phenocopy, and further cases would be required to elucidate this.

Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders

“…16p11.2 deletions and duplications are frequently reported for prenatal and postnatal diagnosis of patients with neurological syndromes [ 21 ]. Xq21 microdeletions and duplications are currently in lime light due to its unique penetrance mechanism in neurodevelopmental disorders like Prader-Willi syndrome [ 22 ]. Deletions at Xq21 locus explains neurodevelopmental malformations due to decrease in dosage of genes involving rare hereditary and congenital brain disorders [ 23 ].…”