Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother
| Autor: | Karoline S. Puder, Mili Thakur, Bernard Gonik, Salah A.D. Ebrahim, Henry Adekola, Elena Bronshtein, Michael Hankerd |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine Microarray Mothers In situ hybridization 030105 genetics & heredity Biology Nervous System Malformations Ultrasonography Prenatal Cerebral Ventricles 03 medical and health sciences Pregnancy Genetics medicine Humans Genetic Testing Gene In Situ Hybridization Fluorescence Genetics (clinical) Comparative Genomic Hybridization Chromosome Genomics medicine.disease Phenotype Chromosomes Human Pair 6 Female Chromosome Deletion Haploinsufficiency Ventriculomegaly Comparative genomic hybridization |
| Zdroj: | American Journal of Medical Genetics Part A. 176:1985-1990 |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | Terminal deletions of the chromosome 6q27 region are rare genomic abnormalities, linked to specific brain malformations and other neurological phenotypes. Reported cases have variable sized genomic deletions that harbor several genes including the DLL1 and TBP. We report on an inherited 0.38 Mb terminal deletion of chromosome 6q27 in a 22-week fetus with isolated bilateral ventriculomegaly and her affected mother using microarray-based comparative genomic hybridization and fluorescent in situ hybridization (FISH). The deleted region harbors at least seven genes including DLL1 and TBP. The affected mother had a history of hydrocephalus, developmental delay, and seizures commonly associated with DLL1 and TBP 6q27 deletions. This deletion is one of the smallest reported isolated 6q27 terminal deletions. Our data provides additional evidence that haploinsufficiency of the DLL1 and TBP genes may be sufficient to cause the ventriculomegaly, seizures, and developmental delays associated with terminal 6q27 deletions, indicating a plausible role in the abnormal development of the central nervous system. |
| Databáze: | OpenAIRE |
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