Case Reports
Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3
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- PMID: 1610119
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Case Reports
Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3
Ann Genet.
1992.
Abstract
Report on the child of normal unrelated parents presenting the typical features of acrocallosal syndrome (craniofacial dysmorphy, mental deficiency, convulsive disorder, agenesis of corpus callosum, preaxial polydactyly "hallux duplex" of both feet, and in addition diabetes insipidus) in which a mirror duplication of nearly the entire short arm of chromosome 12 was discovered. Since the symptomatology of trisomy and tetrasomy 12p shows some overlap with acrocallosal syndrome a common origin of the monogenic disorder and the chromosomal phenotypes is discussed.
Comment in
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Acrocallosal syndrome and 12p.Ann Genet. 1993;36(2):136. Ann Genet. 1993. PMID: 8215222 No abstract available.
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