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Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by duplication/deficiency of a single locus

Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by... 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by duplication/deficiency of a single locus

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References (21)

Publisher
Wiley
Copyright
Copyright © 1986 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.1320250610
Publisher site
See Article on Publisher Site

Abstract

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.

Journal

American Journal of Medical Genetics Part AWiley

Published: Jan 1, 1986

Keywords: ; ; ;

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