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Mental Retardation and Congenital Malformations of the Central Nervous System
Four cases of holoprosencephaly with duplication/deletion involving chromosome 13 are presented and additional cases are summarized from the literature. When examined as a series, the duplications (trisomy 13, trisomy 13pter → q14) and deletions (deletion 13q12 → qter, deletion 13q31 → qter, ring 13 with deletion 13q14 → qter) exclude deletion or duplication of single chromosome 13 bands as the cause for holoprosencephaly. Increased dosage of the 13pter → q14 region relative to the 13q14 → qter region as the cause is also ruled out by the duplication 13q21 → qter cases reported in the literature. Altered timing of forebrain development, causing reversion to a more primitive embryonic and phylogenetic brain structure, is related to dosage imbalance of at least two chromosome 13 regions.
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 1986
Keywords: ; ; ;
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