title: Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12).
abstract: The relationship of delayed membranous cranial ossification to cranium bifidum and parietal foramina syndromes is unclear. We report on a family with delayed cranial membranous ossification (OMIM 155980) that segregates with an apparently balanced reciprocal translocation between chromosomes 2 and 3. The propositus had apparently low-set ears, proptosis, and a soft skull at birth. A radiographic survey of the skeleton showed markedly decreased ossification of the cranial bones and no other skeletal abnormalities. The mother and maternal grandmother of the propositus have brachycephaly, hypertelorism, and a history of a soft skull at birth. Chromosome analysis of peripheral blood from the propositus showed 46,XY,t(2;3)(p15;q12). The propositus, mother, and grandmother carry the same reciprocal translocation, whereas the mother's two phenotypically normal sibs have a normal karyotype. We used an STS-linked BAC resource to define the translocation breakpoint by identifying flanking BAC clones from both chromosomes 2, 1006D24 (D2S2279) and 1060A5 (D2S2231), and chromosome 3, 3D17 (WI8558) and 3D18 [CITB Human BAC Library, J.R.K.]. This represents the second report of a family with delayed membranous ossification of the cranium and the first report of the phenotype segregating with a chromosome rearrangement.
authors.affiliation: Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: C B
authors.initials: CB
authors.lastname: Cargile
authors.forename: I
authors.initials: I
authors.lastname: McIntosh
authors.forename: M V
authors.initials: MV
authors.lastname: Clough
authors.forename: J
authors.initials: J
authors.lastname: Rutberg
authors.forename: R
authors.initials: R
authors.lastname: Yaghmai
authors.forename: B K
authors.initials: BK
authors.lastname: Goodman
authors.forename: X N
authors.initials: XN
authors.lastname: Chen
authors.forename: J R
authors.initials: JR
authors.lastname: Korenberg
authors.forename: G H
authors.initials: GH
authors.lastname: Thomas
authors.forename: M T
authors.initials: MT
authors.lastname: Geraghty
mesh_terms: D000328:Adult; D002889:Chromosomes, Human, Pair 2; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D010012:Osteogenesis / Q000235:genetics*; D010375:Pedigree; D012886:Skull / Q000254:growth & development*; D014178:Translocation, Genetic