Recent molecular cytogenetic studies have elucidated the origin and nature of extra structurally abnormal chromosomes or small supernumerary chromosomes, which are often associated with developmental delay and malformations. The most common of the heterogeneous group of the extra structurally abnormal chromosomes is the inv dup (15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. In the literature, benign familial infantile seizures locus have been found in 19q12-13.1 ve 16p12-q12 chromosomes. In this study, we descript a family which have benign familial infantile seizures accompanied by 15 q21.1, q26.2 inversion, because it has not been declareded before
BackgroundMaternally-derived duplications that include the imprinted region on the proximal long arm...
Many neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-...
Interstitial triplications of 15q11-q13, leading to tetrasomy of the involved region, are very rare,...
AbstractAn inverted duplication of chromosome 15 (inv dup[15] chromosome) is the most common supernu...
AbstractObjectiveTo present molecular cytogenetic characterization of an inverted duplication of pro...
Inverted duplicated chromosome 15 (Inv dup [15]) syndrome is a genetic disorder characterized by psy...
Interstitial chromosome 15q11–q13 duplications are associated with developmental delay, behavioral p...
We describe a family in whom a pericentric inversion of chromosome 5 segregates with benign familial...
Inverted duplicated chromosome 15 (Inv dup [15]) syndrome is a genetic disorder characterized by psy...
Abstract Background Maternally-derived duplications that include the imprinted region on the proxima...
Duplications of chromosome 15 have been reported in individuals with atypical autism, varying degree...
Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy s...
The most common of the heterogeneous group of the extra structurally abnormal chromosomes (ESACs) is...
The proximal regions of acrocentric chromosomes, particularly 15q11.2, are frequently involved in st...
Purpose: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. It is charac...
BackgroundMaternally-derived duplications that include the imprinted region on the proximal long arm...
Many neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-...
Interstitial triplications of 15q11-q13, leading to tetrasomy of the involved region, are very rare,...
AbstractAn inverted duplication of chromosome 15 (inv dup[15] chromosome) is the most common supernu...
AbstractObjectiveTo present molecular cytogenetic characterization of an inverted duplication of pro...
Inverted duplicated chromosome 15 (Inv dup [15]) syndrome is a genetic disorder characterized by psy...
Interstitial chromosome 15q11–q13 duplications are associated with developmental delay, behavioral p...
We describe a family in whom a pericentric inversion of chromosome 5 segregates with benign familial...
Inverted duplicated chromosome 15 (Inv dup [15]) syndrome is a genetic disorder characterized by psy...
Abstract Background Maternally-derived duplications that include the imprinted region on the proxima...
Duplications of chromosome 15 have been reported in individuals with atypical autism, varying degree...
Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy s...
The most common of the heterogeneous group of the extra structurally abnormal chromosomes (ESACs) is...
The proximal regions of acrocentric chromosomes, particularly 15q11.2, are frequently involved in st...
Purpose: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. It is charac...
BackgroundMaternally-derived duplications that include the imprinted region on the proximal long arm...
Many neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-...
Interstitial triplications of 15q11-q13, leading to tetrasomy of the involved region, are very rare,...