Article
Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12-->q13.3) inherited from the mother.
Clinical genetics - 1 Aug 1996
Apacik C, Cohen M, Jakobeit M, Schmucker B, Schuffenhauer S, Thurn und Taxis E, Genzel-Boroviczeny O, Stengel-Rutkowski S
Abstract excerpt
We present the phenotypic, cytogenetic and molecular findings in two dysmorphic and mentally retarded brothers with disomy Xq12-->q13.3. The mother and the grandmother carry the same rearrangement of the X chromosome, which was interpreted as an inverted insertion of the segment (X)(q12-->q13.3)...
Topics
- Abnormalities, Multiple
- Chromosome Inversion
- Dosage Compensation, Genetic
- Fatal Outcome
- Female
- Humans
- Infant, Newborn
- Intellectual Disability
- Male
- Multigene Family
- Pedigree
- Phenotype
- Sex Chromosome Aberrations
- X Chromosome