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Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals

✍ Scribed by Brueton, Louise A. ;Reeve, Ann ;Ellis, Richard ;Husband, Peter ;Thompson, Elizabeth M. ;Kingston, Helen M.

Book ID
102700893
Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
663 KB
Volume
43
Category
Article
ISSN
0148-7299

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✦ Synopsis

Cleidocranial dysplasia is an autosomal dominant, generalised skeletal disorder characterised by variable clavicular hypoplasia, frontal bossing, multiple Wormian bones, and delayed eruption of the teeth. The gene locus for this syndrome has not yet been assigned. Three individuals with manifestations of cleidocranial dysplasia associated with rearrangements of chromosome 8q22 are described. The evidence presented suggests that the gene for cleidocranial dysplasia may be located on chromosome 8q in humans in a region showing homology to mouse chromosome 3.

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