Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3.
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.
Pfeiffer
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Institut für Humangenetik, Friedrich-Alexander Universität, Erlangen-Nürnberg, Germany.
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Trautmann
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D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D002881:Chromosomes, Human, Pair 12; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D005810:Multigene Family / Q000235:genetics*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014314:Trisomy