title: Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion.
abstract: 13q deletion syndrome is a rare genetic disorder caused by deletions of the long arm of chromosome 13. Patients with 13q deletion display a variety of phenotypic features. We describe a one-year-old female patient with congenital heart defects (CHD), facial anomalies, development and mental retardation. We identified a 12.75Mb deletion in chromosome region 13q33.1-34 with high resolution SNP Array (Human660W-Quad, Illumina, USA). This chromosome region contains about 55 genes, including EFNB2, ERCC5, VGCNL1, F7, and F10. Comparing our findings with previously reported 13q deletion patients with congenital heart defects, we propose that the 13q33.1-34 deletion region might contain key gene(s) associated with cardiac development. Our study also identified a subclinical deficiency of Factors VII and X in our patient with Group 3 of 13q deletion syndrome.
authors.affiliation: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan Province 410011, China.
authors.forename: Can
authors.initials: C
authors.lastname: Huang
authors.forename: Yi-Feng
authors.initials: YF
authors.lastname: Yang
authors.forename: Ni
authors.initials: N
authors.lastname: Yin
authors.forename: Jin-Lan
authors.initials: JL
authors.lastname: Chen
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Hong
authors.initials: H
authors.lastname: Zhang
authors.forename: Zhi-Ping
authors.initials: ZP
authors.lastname: Tan
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D004268:DNA-Binding Proteins / Q000235:genetics; D004720:Endonucleases / Q000235:genetics; D036388:Ephrin-B2 / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005168:Factor VII Deficiency / Q000235:genetics; D005171:Factor X Deficiency / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D000099250:DNA Excision Repair Protein ERCC-5
chemical_list: D004268:DNA-Binding Proteins; D004720:Endonucleases; D036388:Ephrin-B2; D009687:Nuclear Proteins; D014157:Transcription Factors; D000099250:DNA Excision Repair Protein ERCC-5