Familial 14-Mb deletion at 21q11.2–q21.3 and variable phenotypic expression
نویسندگان
چکیده
منابع مشابه
Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping
Objective Globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. Researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of DPY19L2 or mutations in SPATA16 and PICK1 genes associated with globozoospermia. The aim of this study was to analyze the DPY19L2 gene deletion using polymerase chain reaction technique for th...
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We report a half-sibling cohort with deletion of 4p16.1, astigmatism, gross and fine motor delay, variable intellectual disability, and variable behavioral concerns. However, two siblings without the deletion also had learning delays and psychological concerns. Thus, variable phenotypic expression was seen and the significance of deletion of 4p16.1 remains unclear.
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Interstitial deletions of the long arm of chromosome 14 are infrequent. Molecular and clinical studies on patients with deletions involving 14q11.2-q21 have recently been reported. Most of these deletion patients share common clinical signs, such as midline defects of the central nervous system, feeding problems, growth abnormalities, hypotonia, developmental delay, mental retardation, and cran...
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Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2002
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s100380200076