Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12).

Autor: Cargile CB; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., McIntosh I, Clough MV, Rutberg J, Yaghmai R, Goodman BK, Chen XN, Korenberg JR, Thomas GH, Geraghty MT
Jazyk: angličtina
Zdroj: American journal of medical genetics [Am J Med Genet] 2000 Jun 19; Vol. 92 (5), pp. 328-35.
DOI: 10.1002/1096-8628(20000619)92:5<328::aid-ajmg7>3.0.co;2-p
Abstrakt: 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.
(Copyright 2000 Wiley-Liss, Inc.)
Databáze: MEDLINE
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