title: 24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.
abstract: 24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: C-P
authors.initials: CP
authors.lastname: Chen
authors.forename: T-H
authors.initials: TH
authors.lastname: Wang
authors.forename: S-P
authors.initials: SP
authors.lastname: Lin
authors.forename: S-R
authors.initials: SR
authors.lastname: Chern
authors.forename: M-R
authors.initials: MR
authors.lastname: Chen
authors.forename: C-C
authors.initials: CC
authors.lastname: Lee
authors.forename: Y-J
authors.initials: YJ
authors.lastname: Chen
authors.forename: W
authors.initials: W
authors.lastname: Wang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D003582:Cytogenetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D007223:Infant; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D018633:Pulmonary Atresia / Q000235:genetics; D014178:Translocation, Genetic