Article
Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia.
Clinical genetics - 1 May 1991
Wulfsberg E A, Wassel W C, Polo C A
Abstract excerpt
Diploid/triploid mosaicism is an uncommon clinical syndrome with a subtle but distinctive phenotype. Characteristic features include prenatal and postnatal asymmetric growth deficiency, triangular and/or asymmetric facies, micrognathia, finger and/or toe syndactyly, clinodactyly, single transverse palmar creases, male genital anomalies, hypotonia and psychomotor retardation. This disorder is underdiagnosed...
Topics
- Abnormalities, Multiple
- Child
- Chromosome Aberrations
- Chromosome Disorders
- Diploidy
- Diseases in Twins
- Facial Asymmetry
- Female
- Humans
- Intellectual Disability
- Karyotyping
- Mosaicism