title: Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.
abstract: We describe the clinical phenotype in four males from three families with duplication (X)(qter-->q27::p22.3-->qter). This is an unusual duplication of the distal long arm segment, Xq27-qter, onto the distal short arm of the X chromosome at Xp22.3, as shown by fluorescent in situ hybridization analysis with multiple X-specific probes. The patients are young male offspring of three unrelated, phenotypically normal carrier women. The affected males have similar clinical manifestations including severe growth retardation and developmental delay, severe axial hypotonia, and minor anomalies. Such clinical similarity in three unrelated families demonstrates that this chromosome abnormality results in a new and distinct clinical phenotype. Replication studies, performed on two of the mothers, provided evidence that inactivation of the abnormal X chromosome permitted the structural abnormality to persist in these families for a generation or more in females without phenotypic expression.
authors.affiliation: Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
authors.forename: B K
authors.initials: BK
authors.lastname: Goodman
authors.forename: L G
authors.initials: LG
authors.lastname: Shaffer
authors.forename: J
authors.initials: J
authors.lastname: Rutberg
authors.forename: M
authors.initials: M
authors.lastname: Leppert
authors.forename: K
authors.initials: K
authors.lastname: Harum
authors.forename: S
authors.initials: S
authors.lastname: Gagos
authors.forename: J H
authors.initials: JH
authors.lastname: Ray
authors.forename: M G
authors.initials: MG
authors.lastname: Bialer
authors.forename: X
authors.initials: X
authors.lastname: Zhou
authors.forename: B A
authors.initials: BA
authors.lastname: Pletcher
authors.forename: S K
authors.initials: SK
authors.lastname: Shapira
authors.forename: M T
authors.initials: MT
authors.lastname: Geraghty
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005192:Family Health; D005260:Female; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000473:pathology; D014960:X Chromosome / Q000235:genetics*