A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication in an abnormal female. We discuss the possibility of a maternal imprinting. [References: 20
In females carrying structural rearrangements of an X-chromosome, cells with the best dosage balance...
Only a small number of individuals with duplications within the proximal short arm of the X chromoso...
Maternal uniparental disomy of chromosome 21 [upd(21)mat] was found previously in a normal female an...
A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de nov...
We report a de novo dup(X)(q23→q26) in a 3-year-old girl with growth retardation, developmental dela...
The relationship between phenotype and Xq duplicationsin females remains unclear. Some females are n...
Background Xq duplication is a rare condition with a very variable phenotype, which could mimic othe...
AbstractObjectiveTo present molecular cytogenetic characterization of a de novo duplication of Xq22....
[[abstract]]A 19-year-old woman presented with psychomotor retardation, developmental delay, mental ...
We report on an 18-year-old female with de novo tandem duplication Xq23-->Xq27-28. The breakpoints o...
Abstract Background Down syndrome is characterized by trisomy 21 or partial duplication of chromosom...
An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found t...
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males wi...
International audienceWe describe a female infant with severe abnormal phenotype with a de novo part...
We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated wit...
In females carrying structural rearrangements of an X-chromosome, cells with the best dosage balance...
Only a small number of individuals with duplications within the proximal short arm of the X chromoso...
Maternal uniparental disomy of chromosome 21 [upd(21)mat] was found previously in a normal female an...
A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de nov...
We report a de novo dup(X)(q23→q26) in a 3-year-old girl with growth retardation, developmental dela...
The relationship between phenotype and Xq duplicationsin females remains unclear. Some females are n...
Background Xq duplication is a rare condition with a very variable phenotype, which could mimic othe...
AbstractObjectiveTo present molecular cytogenetic characterization of a de novo duplication of Xq22....
[[abstract]]A 19-year-old woman presented with psychomotor retardation, developmental delay, mental ...
We report on an 18-year-old female with de novo tandem duplication Xq23-->Xq27-28. The breakpoints o...
Abstract Background Down syndrome is characterized by trisomy 21 or partial duplication of chromosom...
An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found t...
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males wi...
International audienceWe describe a female infant with severe abnormal phenotype with a de novo part...
We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated wit...
In females carrying structural rearrangements of an X-chromosome, cells with the best dosage balance...
Only a small number of individuals with duplications within the proximal short arm of the X chromoso...
Maternal uniparental disomy of chromosome 21 [upd(21)mat] was found previously in a normal female an...