Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts
| Autor: | G.O. Oseni, Chika K. Onwuamah, Lord J.J. Gowans, Taiye Halilu, Saidu A. Bello, Solomon Obiri-Yeboah, Babatunde S. Aregbesola, Arwa I. Owais, Tamara Busch, Azeez Butali, Cecelia A. Laurie, Cathy C. Laurie, P.B. Olaitan, Olutayo James, Deepti Jain, Peter Donkor, Olugbenga M. Ogunlewe, Adebowale Adeyemo, Gyikua Plange-Rhule, Mekonen Eshete, Peter A. Mossey, Wasiu Lanre Adeyemo, Jeffrey C. Murray, Fadekemi Olufunmilayo Oginni, Mary L. Marazita, Rosemary A. Audu, F. Abate, Lukman O. Abdur-Rahman, Abimbola V. Oladugba |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Adult Male uniparental disomy Genetic counseling Chromosomes Human Pair 22 Cleft Lip Genome-wide association study Chromosome Disorders Trisomy Biology Triple X syndrome 03 medical and health sciences Chromosome 18 Genetics medicine Humans GWAS Child Molecular Biology Genetics (clinical) Genetic testing medicine.diagnostic_test Mosaicism Infant Newborn Infant deletions Original Articles Middle Aged medicine.disease Uniparental disomy 3. Good health Cleft Palate 030104 developmental biology Female Original Article Klinefelter syndrome Chromosome Deletion Chromosomes Human Pair 18 Chromosome 22 cleft lip and palate |
| Zdroj: | Molecular Genetics & Genomic Medicine |
| ISSN: | 2324-9269 |
| Popis: | 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 (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. 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. |
| Databáze: | OpenAIRE |
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