Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12).
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.
Cargile
C B
CB
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
McIntosh
I
I
Clough
M V
MV
Rutberg
J
J
Yaghmai
R
R
Goodman
B K
BK
Chen
X N
XN
Korenberg
J R
JR
Thomas
G H
GH
Geraghty
M T
MT
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