A t(4;9)(q34;p22) Translocation Associated with Partial Epilepsy, Mental Retardation, and Dysmorphism

Epilepsy and Mental Retardation

Epilepsy is one of the most frequently associated conditions with mental retardation which interferes with the learning process. Vie present study investigates the 1207 cases (Male -8I4, Female-393) registered at NIMH, Secunderabad, over a period of two years. Vie factors studied were the prevalence of epilepsy, degree of mental retardation, aetiology and associated factors. Ten mentally retard...

Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.

OBJECTIVE To determine gene(s) disrupted in a patient with partial frontal lobe epilepsy and cognitive impairment with concomitant de novo balanced chromosomal translocation t(2;13)(q24;q31). DESIGN Fluorescence in situ hybridization and array comparative genomic hybridization were used to map the locations of chromosomal translocation breakpoints. RESULTS SLC4A10 (OMIM 605556), a sodium bi...

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.

EDITOR—Congenital disorders of glycosylation (CDG) are a heterogeneous group of autosomal recessive multisystemic conditions causing severe central nervous system and multivisceral disorders resulting from impairment of the glycosylation pathway. Two disease causing mechanisms have been identified so far. CDG I is caused by a defect in the assembly of the dolicholpyrophosphate oligosaccharide p...

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.

A mildly dysmorphic, mentally retarded male with neurofibromatosis 1 (NF1) was found to have a de novo deletion of chromosome 17. The deletion occurred on the paternally derived chromosome 17 as shown by the absence of a D17S73 paternal allele. Densitometric analysis indicated that, in addition to the D17S73 locus, the patient has only one copy of four other adjacent loci. The deletion involved...