title: A case with de novo interstitial deletion of chromosome 7q21.1-q22.
abstract: A case with de novo interstitial deletion of chromosome 7q21.1-q22: A patient with multiple congenital anomalies was found to have a de novo proximal interstitial deletion of chromosome 7q21.1-q22. The patient was 10.5 years of age, and manifestations include growth retardation (below 3rd percentile), mental retardation, mild microcephaly, hypersensitivity to noise, mild spasticity, short palpebral fissures, alternant exotropia, compensated hypermetropic astigmatism, hypotelorism, hypoplastic labia majora and minora, clinodactyly of fingers 4 and 5. Molecular studies revealed that the deletion had a paternal origin, while chromosomes of both parents cytogenetically were shown to be normal. Molecular, and fluorescence in situ hybridization (FISH) analyses confirmed no deletion at the Williams-Beuren Syndrome region. Some of the heterogeneous clinical findings were consistent with previously reported cases of same chromosomal breakpoints.
authors.affiliation: Akdeniz University, Faculty of Medicine, Department of Medical Biology and Genetics, 07070, Antalya, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Manguoğlu
authors.forename: S
authors.initials: S
authors.lastname: Berker-Karaüzüm
authors.forename: A
authors.initials: A
authors.lastname: Baumer
authors.forename: E
authors.initials: E
authors.lastname: Mihçi
authors.forename: S
authors.initials: S
authors.lastname: Taçoy
authors.forename: G
authors.initials: G
authors.lastname: Lüleci
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001418:Baclofen; D002648:Child; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence
chemical_list: D001418:Baclofen