1p36 deletion syndrome: an update

The Application of Clinical Genetics
Valerie K JordanDaryl A Scott

Abstract

Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans. Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies. Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths located throughout the 30 Mb of DNA that comprise chromosome 1p36. Array-based copy number variant analysis can easily identify genomic regions of 1p36 that are deleted in an affected individual. However, predicting the phenotype of an individual based solely on the location and extent of their 1p36 deletion remains a challenge since most of the genes that contribute to 1p36-related phenotypes have yet to be identified. In addition, haploinsufficiency of more than one gene may contribute to some phenotypes. In th...Continue Reading

Citations

Oct 27, 2016·Revista chilena de pediatría·Sabina Bello, Antonio Rodríguez-Moreno
Feb 15, 2016·Reproductive Biomedicine Online·Erdal TunçNesrin Çetinel
Jan 23, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Geoffroy DelplancqPaul Kuentz
Jan 28, 2020·Ear and Hearing·Elina KariIsabelle Schrauwen
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Sep 3, 2020·Journal of Cell Science·Wim Annaert, Christoph Kaether
Oct 31, 2019·Case Reports in Obstetrics and Gynecology·Masatake ToshimitsuJun Murotsuki
Mar 3, 2020·Frontiers in Molecular Neuroscience·Daan R Van der VeenSimon N Archer
Jun 24, 2020·Proceedings of the National Academy of Sciences of the United States of America·Ivano AmelioGerry Melino
Jun 22, 2018·Molecular Syndromology·Marta-Catalina Miranda-FernándezRodrigo Cabrera
Mar 5, 2021·Life Science Alliance·Elena A AfanasyevaFrank Westermann
Apr 20, 2021·Frontiers in Cell and Developmental Biology·Laura Bozal-BasterraRosa Barrio
Nov 18, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Anubhuti SoodDeepika Mishra

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Methods Mentioned

BETA
biopsies
ubiquitination
transgenic

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