Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay
نویسندگان
چکیده
منابع مشابه
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
PURPOSE The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molec...
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We report the first visible cytogenetic deletion involving the NF1 gene in a patient with sporadic neurofibromatosis, dysmorphic features, and marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for microsatellite markers, high resolution G banding, and FISH analysis, predicts this deletion to be approximately 7 Mb in...
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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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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2019
ISSN: 2050-0904,2050-0904
DOI: 10.1002/ccr3.2186