Article
Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies.
American journal of medical genetics - 15 Apr 1993
Aughton D J, AlSaadi A A, Johnson J A, Transue D J, Trock G L
Abstract excerpt
In males, duplication of a portion of Xq is associated with multiple congenital anomalies and developmental delay. Most females recognized as having dup(Xq) are phenotypically apparently normal relatives of phenotypically abnormal males; phenotypic normalcy has been attributed to selective inacti...
Topics
- Abnormalities, Multiple
- Child, Preschool
- Chromosome Aberrations
- Developmental Disabilities
- Dosage Compensation, Genetic
- Female
- Growth Disorders
- Humans
- Microcephaly
- Phenotype
- Seizures
- X Chromosome