Is Chromosome 15q13.3 Duplication Involving CHRNA7 Associated With Oral Clefts?
نویسندگان
چکیده
منابع مشابه
Is Chromosome 15q13.3 Duplication Involving CHRNA7 Associated With Oral Clefts?
Copy number variants have been associated with intellectual disability, multiple congenital anomalies and craniofacial disorders. It has been reported that microduplication of 15q13.3 is associated with autism, cognitive impairment, seizures, and attention-deficit hyperactivity disorder. Here, the author identified microduplications in the 15q13.3 region in 4 cases from 3 Chinese families using...
متن کاملIRF6 AP-2a binding site promoter polymorphism is associated with oral clefts in Latvia.
OBJECTIVE To evaluate the association between AXIN2, CDH1 and IRF6 with oral clefts in a cohort from Latvia. MATERIAL AND METHODS 283 unrelated individuals, 93 born with isolated oral clefts and 190 individuals born without any structural abnormalities were evaluated. Cleft type and dental anomalies outside the cleft area were determined by clinical examination. Four SNPs were selected for th...
متن کاملReciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
BACKGROUND Several copy number variants (CNVs) have been implicated as susceptibility factors for schizophrenia (SZ). Some of these same CNVs also increase risk for autism spectrum disorders, suggesting an etiologic overlap between these conditions. Recently, de novo duplications of a region on chromosome 7q11.23 were associated with autism spectrum disorders. The reciprocal deletion of this re...
متن کاملA duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20
Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication within the previously linked SCA20 region, which was confirmed by quantitative polymerase chain reacti...
متن کاملArrhinencephaly associated with a deficiency involving chromosome 18.
and The Children's Hospital, Birmingham Bilateral harelip, cleft palate, and some form of arrhinencephalic malformation of the brain are among the more common striking features of tri-somy 13-15. These cranio-facial malformations are attributable to a defect of the prechordal meso-derm, and the most extreme form consists of cyclopia associated with a monoventricular brain. The facial and cerebr...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Child Neurology Open
سال: 2015
ISSN: 2329-048X,2329-048X
DOI: 10.1177/2329048x15618918