Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract
نویسندگان
چکیده
منابع مشابه
Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease.
The apolipoprotein E (APOE) gene has been consistently shown to be a major genetic risk factor; however, all cases of Alzheimer's disease (AD) cannot be attributed to the epsilon4 variant of APOE, because about half of AD patients have the APOE-epsilon3*3 genotype. To identify an additional genetic risk factor(s), we performed large-scale single nucleotide polymorphism (SNP)-based association a...
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Periventricular heterotopia (PH) is a malformation of cortical development characterized by the ectopic localization of neuronal nodules along the lateral ventricle. Mutations in X-linked filamin A gene are the most common cause of PH, although a rarer autosomal recessive form of PH with microcephaly due to ARFGEF2 mutations has been described [Sheen et al., 2001]. Affected individuals generall...
متن کاملTriplication of distal chromosome 10q.
We describe a patient with a de novo chromosomal aberration with karyotype 46,XY,10q+, presenting clinical features of partial duplication of distal chromosome 10q. Further studies using microsatellites and FISH showed a triplication of distal chromosome 10q. The rearrangement involved both maternal homologues and the middle chromosomal 10q fragment of the triplication was inverted, similar to ...
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Breast Cancer (BC) is considered as one of the most important causes of death worldwide. Previous studies showed that apolipoprotein B mRNA- editing catalytic polypeptide-like 3 (APOBEC3) gene deletion significantly increased the risk of BC risk in Chinese and European women. The present study aimed to assess the possible impact of APOBEC3 deletion and the risk of BC in a sample of Iranian popu...
متن کاملBlepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).
A case of blepharophimosis, ptosis, and epicanthus inversus (BPES) associated with prenatally diagnosed diaphragmatic hernia and interstitial deletion of the long arm of chromosome 3, del(3)(q21q23), is reported. Comparison with other cases of BPES resulting from 3q rearrangements indicate that this disorder, previously assigned to 3q2, can now be more accurately mapped to 3q23.
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ژورنال
عنوان ژورنال: Pediatrics & Neonatology
سال: 2013
ISSN: 1875-9572
DOI: 10.1016/j.pedneo.2012.10.010