Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.
نویسندگان
چکیده
منابع مشابه
Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.
We report four cases of congenital diaphragmatic hernia occurring in two generations of a consanguineous Pakistani family. The affected subjects resembled no recognised genetic syndrome. This family provides further evidence for possible autosomal recessive inheritance of congenital diaphragmatic hernia in some cases.
متن کاملAutosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
PURPOSE To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families. METHODS All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected a...
متن کاملGenetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH)
Objective(s): Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. Materials and Methods: Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was perf...
متن کاملAutosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
PURPOSE To investigate the genetic basis of autosomal recessive congenital cataracts in a consanguineous Pakistani family. METHODS All affected individuals underwent a detailed ophthalmological and clinical examination. Blood samples were collected and genomic DNAs were extracted. A genome-wide scan was performed with polymorphic microsatellite markers. Logarithm of odds (LOD) scores were cal...
متن کاملCongenital diaphragmatic hernia with familial occurrence in a Taiwanese pedigree.
Congenital diaphragmatic hernia (CDH) is a developmental defect that accounts for 8% of all major congenital anomalies and is associated with a high mortality rate despite optimal postnatal treatment. Its etiology is uncertain. We report a case of familial CDH in a Taiwanese family. We believe autosomal recessive inheritance is the possible genetic etiology of CDH in this family.
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: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.7.601