Vera-Carbonell A.,Hospital Clinico Universitario Virgen Of La Arrixaca |
Vera-Carbonell A.,Instituto Murciano Of Investigacion Biosanitaria Arrixaca Imib Arrixaca |
Vera-Carbonell A.,Research Center Biomedica Of Red Of Enfermedades Raras Ciberer |
Lopez-Gonzalez V.,Hospital Clinico Universitario Virgen Of La Arrixaca |
And 16 more authors.
American Journal of Medical Genetics, Part A | Year: 2015
The 10q26 deletion syndrome is a clinically heterogeneous disorder. The most common phenotypic characteristics include pre- and/or postnatal growth retardation, microcephaly, developmental delay/intellectual disability and a facial appearance consisting of a broad nasal bridge with a prominent nose, low-set malformed ears, strabismus, and a thin vermilion of the upper lip. In addition, limb and cardiac anomalies as well as urogenital anomalies are occasionally observed. In this report, we describe three unrelated females with 10q26 terminal deletions who shared clinical features of the syndrome, including urogenital defects. Cytogenetic studies showed an apparently de novo isolated deletion of the long arm of chromosome 10, with breakpoints in 10q26.1, and subsequent oligo array-CGH analysis confirmed the terminal location and defined the size of the overlapping deletions as ∼13.46, ∼9.31 and ∼9.17Mb. We compared the phenotypic characteristics of the present patients with others reported to have isolated deletions and we suggest that small 10q26.2 terminal deletions may be associated with growth retardation, developmental delay/intellectual disability, craniofacial features and external genital anomalies whereas longer terminal deletions affecting the 10q26.12 and/or 10q26.13 regions may be responsible for renal/urinary tract anomalies. We propose that the haploinsufficiency of one or several genes located in the 10q26.12-q26.13 region may contribute to the renal or urinary tract pathogenesis and we highlight the importance of FGFR2 and probably of CTBP2 as candidate genes. © 2015 Wiley Periodicals, Inc.