TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype
نویسندگان
چکیده
منابع مشابه
Value of molecular diagnosis in a family with Marfan syndrome and an atypical vascular phenotype.
Marfan syndrome is mainly caused by mutations in the FBN1 gene. Diagnosis is usually based on clinical criteria, but the phenotypic presentation varies widely among affected individuals. Aortic dissection or rupture is the cause of death in over 90% of untreated patients. Early identification of individuals at risk is important given the availability of medical and surgical treatment that can s...
متن کاملA novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.
Hypospadias, when the urethral opening is located on the ventral side of the penis, is one of the most common congenital malformations with an incidence of 3 per 1000 males. Hypospadias is considered a complex trait caused by several genetic and environmental factors; low birth weight, for example, is associated with an increased risk for hypospadias. Most cases of hypospadias are sporadic but ...
متن کامل[Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier].
Holt-Oram syndrome (HOS) is a disorder characterized by skeletal abnormalities in the upper limbs accompanied by cardiovascular defects. The diagnosis of HOS is based on these abnormalities and defects, both in the individual or in the parents, and is indicative of congenital transmission. All those affected by this syndrome have upper limb skeletal abnormalities, which preferentially affect th...
متن کاملONLINE MUTATION REPORT A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome
Hypospadias, when the urethral opening is located on the ventral side of the penis, is one of the most common congenital malformations with an incidence of 3 per 1000 males. Hypospadias is considered a complex trait caused by several genetic and environmental factors; low birth weight, for example, is associated with an increased risk for hypospadias. Most cases of hypospadias are sporadic but ...
متن کاملA family with Bart-Pumphrey syndrome
All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensor ineural hearing loss (SNHL), palmoplantar keratoderma (PPK) and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in ma...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2012
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2012.16