title: Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits.
abstract: Chromosomal 8p23 deletion syndrome is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. The responsible gene for the heart defects in this syndrome has been identified as GATA4 on 8p23.1. Two patients with interstitial deletions of 8p23.1 were investigated; one patient showed moderate developmental delay and Ebstein anomaly, and the other showed mild delay and typical atrioventricular septum defect. The precise deletion sizes, 17 and 2.9 Mb, were determined by FISH analyses using BAC clones as probes. The latter deletion was the smallest deletion including GATA4 in the previously reported patients, and the critical regions and genes for clinical manifestation of 8p23 deletion syndrome, including facial anomalies, microcephaly, behavioral abnormality, and developmental delay, were discussed.
authors.affiliation: International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Marco T
authors.initials: MT
authors.lastname: Páez
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Hayashi
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yasuda
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Furutani
authors.forename: Shuichi
authors.initials: S
authors.lastname: Asakawa
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Shimizu
authors.forename: Rumiko
authors.initials: R
authors.lastname: Matsuoka
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D050991:GATA4 Transcription Factor / Q000235:genetics; D008040:Genetic Linkage; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010641:Phenotype; D013577:Syndrome
chemical_list: D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human