Open AccessIdentification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts
Author(s) -
Oseni Ganiyu O.,
Jain Deepti,
Mossey Peter A.,
Busch Tamara D.,
Gowans Lord J.J.,
Eshete Mekonen A.,
Adeyemo Wasiu L.,
Laurie Cecelia A.,
Laurie Cathy C.,
Owais Arwa,
Olaitan Peter B.,
Aregbesola Babatunde S.,
Oginni Fadekemi O.,
Bello Saidu A.,
Donkor Peter,
Audu Rosemary,
Onwuamah Chika,
ObiriYeboah Solomon,
PlangeRhule Gyikua,
Ogunlewe Olugbenga M.,
James Olutayo,
Halilu Taiye,
Abate Firke,
AbdurRahman Lukman O.,
Oladugba Abimbola V.,
Marazita Mary L.,
Murray Jeffrey C.,
Adeyemo Adebowale A.,
Butali Azeez
Publication year - 2018
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.459
Subject(s) - uniparental disomy , genetics , context (archaeology) , biology , genotyping , genetic counseling , chromosome , karyotype , genotype , gene , paleontology
Background 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. Methods 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. Results We identified the first reported orofacial cleft case associated with paternal uniparental disomy (pat UPD ) 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. Conclusion 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 place them in context for the families during routine clinical visits and evaluations.