منابع مشابه
Epilepsy and deletions at chromosome 2q24.
Chromosomal abnormalities are an important cause of epilepsy [Singh et al., 2002], which might be the presenting symptom in the context of a specific syndrome. A recent article by Langer et al. [2006] reports on a translocation t(2;15) with deletion at 2q24-q31 in a girl with epilepsy, dysmorphic features, and severe developmental delay. As this case adds to the growing list of severe epilepsy ...
متن کاملChromosome 1p36 deletions
Disease name and synonyms Diagnosis criteria / definition Differential diagnosis Frequency Clinical description Molecular characterization Management References
متن کاملHuman colorectal cancer: high frequency of deletions at chromosome 1p35.
Cytogenetic analyses of human colon cancer cells have revealed a high frequency of chromosome 1p deletions among other chromosomal abnormalities. In order to find out whether these chromosomal alterations are manifestations of loss of genetic material, we surveyed DNA of 62 primary tumors, 7 metastases, and matching peripheral blood cells with a panel of polymorphic DNA probes that detect diffe...
متن کاملPsychiatric inpatients and chromosome deletions within 22q11.2.
Velocardiofacial syndrome (VCFS) is a congenital disorder characterised by multiple dysmorphisms, cleft palate, cardiac anomalies, and learning disabilities due to a microdeletion of chromosome 22q11.2. Although VCFS is often associated with psychiatric symptoms, its prevalence among psychiatric patients is unknown. A total of 326 patients admitted in September and October 1997 to a Japanese ps...
متن کاملInfantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A
Epilepsies can be caused by specific genetic anomalies or by non-genetic factors, but in many cases the underlying cause is unknown. Mutations in the SCN1A and SCN2A genes are reported in childhood epilepsies; in particular SCN1A was found mutated in patients with Dravet syndrome and with generalized epilepsy with febrile seizures plus (GEFS+). In this paper we report a patient presenting with ...
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: American Journal of Medical Genetics Part A
سال: 2006
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.31299