title: Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?
abstract: We report on two brothers (born to nonconsanguineous parents) with short stature, hypospadias, scoliosis, vertebral segmentation defects of "spondylocostal dysostosis" type, and intellectual disability. Results of cytogenetic and molecular genetic tests performed, including routine karyotype, MLPA (multiplex ligation-dependent probe amplification) for common microdeletions and subtelomeric copy number variants, microarray-CGH analysis, and sequencing of four Notch signaling pathway genes (DLL3, MESP2, LFNG, and HES7), were all normal. We present a comparison of the condition in the two boys with known syndromes and suggest that they may represent a hitherto unreported syndrome, most likely following autosomal recessive inheritance, though X-linked inheritance is not excluded.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. shubharaophadke@gmail.com
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
authors.forename: Prajnya
authors.initials: P
authors.lastname: Ranganath
authors.forename: Vijay Raju
authors.initials: VR
authors.lastname: Boggula
authors.forename: Divya
authors.initials: D
authors.lastname: Gupta
authors.forename: Rajendra V
authors.initials: RV
authors.lastname: Phadke
authors.forename: Melissa
authors.initials: M
authors.lastname: Sloman
authors.forename: Peter D
authors.initials: PD
authors.lastname: Turnpenny
mesh_terms: D000293:Adolescent; D020732:Cytogenetic Analysis / Q000379:methods; D004413:Dysostoses / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis* / Q000235:genetics*; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D059785:Karyotype; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods; D035781:Siblings; D013577:Syndrome