Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts

Molecular Genetics & Genomic Medicine
Ganiyu O OseniAzeez Butali

Abstract

Orofacial clefts are the most common malformations of the head and neck region. Genetic and environmental factors have been implicated in the etiology of these traits. We recently conducted genotyping of individuals from the African population using the multiethnic genotyping array (MEGA) to identify common genetic variation associated with nonsyndromic orofacial clefts. The data cleaning of this dataset allowed for screening of annotated sex versus genetic sex, confirmation of identify by descent and identification of large chromosomal anomalies. We identified the first reported orofacial cleft case associated with paternal uniparental disomy (patUPD) on chromosome 22. We also identified a de novo deletion on chromosome 18. In addition to chromosomal anomalies, we identified cases with molecular karyotypes suggesting Klinefelter syndrome, Turner syndrome and Triple X syndrome. Observations from our study support the need for genetic testing when clinically indicated in order to exclude chromosomal anomalies associated with clefting. The identification of these chromosomal anomalies and sex aneuploidies is important in genetic counseling for families that are at risk. Clinicians should share any identified genetic findings and ...Continue Reading

References

Jan 1, 1980·American Journal of Medical Genetics·E Engel
Oct 18, 2001·European Journal of Obstetrics, Gynecology, and Reproductive Biology·F PerrotinG Body
Jan 5, 2002·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·S J WalkerM M Feldkamp
Mar 7, 2002·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Mary L MarazitaYou-e Liu
Apr 2, 2004·American Journal of Medical Genetics. Part a·Anne Chun-Hui TsaiJohn P Johnson
Aug 23, 2005·American Journal of Medical Genetics. Part a·Johanne M D HahnemannMerete Bugge
Jan 20, 2007·Bioinformatics·E S Venkatraman, Adam B Olshen
Sep 16, 2008·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Monica RittlerPierpaolo Mastroiacovo
Nov 26, 2009·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Tiong Yang TanSusan M White
Jun 29, 2010·American Journal of Medical Genetics. Part a·Iman SalahshourifarBin Alwi Zilfalil
Aug 19, 2010·Genetic Epidemiology·Cathy C LaurieUNKNOWN GENEVA Investigators
Feb 19, 2011·Nature Reviews. Genetics·Michael J DixonJeffrey C Murray
Jun 15, 2011·American Journal of Medical Genetics. Part a·Monica RittlerEduardo E Castilla
May 9, 2012·Nature Genetics·Cathy C LaurieBruce S Weir
Aug 15, 2012·Journal of Medical Genetics·Wies MaarseMarie-José Henriëtte van den Boogaard
Feb 19, 2015·American Journal of Medical Genetics. Part a·Elizabeth J LeslieMichael J Dixon

❮ Previous
Next ❯

Citations

Nov 20, 2018·Human Molecular Genetics·Azeez ButaliAdebowale A Adeyemo
Sep 18, 2020·Ecotoxicology and Environmental Safety·Lijun LiuAiguo Ren
Aug 13, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Lord J J GowansAzeez Butali

❮ Previous
Next ❯

Methods Mentioned

BETA
genotyping

Software Mentioned

GENESIS
Ensembl
REDcap
SNPRelate
DECIPHER
R
GWAS Tools

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

Journal of Perinatology : Official Journal of the California Perinatal Association
K M SargarM J Siegel
Trends in Molecular Medicine
Elisabeth MangoldMarkus M Nöthen
Minerva medica
N D'ONGHIA, T CARACENI
Adolescent Medicine: State of the Art Reviews
Suzanne E Kingery, Kupper A Wintergerst
© 2022 Meta ULC. All rights reserved