title: A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.
abstract: Interstitial deletions in the 10q21.3q22.2 chromosomal region are rare. A de novo microdeletion in this region was identified in a patient with severe developmental delay and multiple congenital anomalies, including congenital heart defects. The identified 10.4-Mb deletion included 84 RefSeq genes. CTNNA3 and JMJD1C have been associated with cardiomyopathy and neurological impairments (autism and/or intellectual disability), respectively. Because there is no gene which shows one-to-one relation to clinical features observed in this patient, combinatory deletion of the genes in this region would be causative of the clinical features in this patient.
authors.affiliation: Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.affiliation: Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Toshiyuki
authors.identifier: http://orcid.org/0000-0002-9484-3505
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10 / Q000737:chemistry*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D059785:Karyotype
keywords: comparative genomic hybridization; congenital heart defect; microarray; short extremities; webbed neck