Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature

Abstract

Proximal 10q duplication is a well-defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy with phenotypic abnormalities (severe central hypotonia, mild ataxia, moderate developmental delay and mild dysmorphic features), due to duplication of chromosome region, 10q11.21→q11.22, which was characterized by the array-comparative genomic hybridization (CGH) technique. The phenotypic findings were compared with those in eight additional similar published cases. Major similarities have emerged, suggesting a likely minimal critical region. However, only detailed characterization of additional cases may provide firm conclusions.

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes

“…The variant in DIS3L2 is associated with Perlman syndrome, which is consistent with prenatal USS ndings in this fetus, showing fetal ascites and enlarged kidneys. The 10q microduplication is a well-de ned and rare genetic occurrence that may lead to severe central hypotonia, mild ataxia, moderate developmental delay and mild dysmorphic features that would be unlikely to be detected antenatally(Manolakos et al 2014). pulmonary veins.…”

Recurrent Rare Copy Number Variants Increase Risk for Esotropia

“… 62 Interestingly, large (>5Mb) duplications of 10q11, which encompass the 654kb region we report, cause 10q duplication syndrome which includes developmental delay, dysmorphic features, and, in 5/8 cases, strabismus. 63 A male with a 4.5Mb duplication of 4p15.2, which encompasses the 23kb duplication we report here, was reported to have developmental delay, congenital heart disease and strabismus. 64 The participants in this study all had nonsyndromic strabismus, and there are no specific syndromes associated with the precise duplications we identified.…”

Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report

“…To our knowledge, in the literature, less than 20 cases of 10q proximal duplication studied with GMA were reported. In 2014, Manolakos et al [ 31 ] described a 3-year-old boy with a 10q11.21q11.22 duplication, which showed hypotonia, developmental delay, and mild dysmorphic features (enlarged head circumference, cryptorchidism, and single palmar creases of hands). In their study, the authors did not report autism.…”

“…There are few reports of microduplications involving 10q11.22-q11.23 chromosomal bands detected by GMA. In 2014, Manolakos et al [ 31 ] described the case of a 3-year-old boy with phenotypic abnormalities and duplication of the chromosomal region 10q11.21q11.22. A case of maternally inherited 10q11.23 duplication in an individual with autism was reported among novel potentially pathogenic CNVs found in the Childhood Autism Risks from Genetics and Environment (CHARGE) cohort [ 32 ].…”