1. Monosomy of 1p13.3-22.3 in twins
- Author
-
Heather Dockery and J. Van der Westhuyzen
- Subjects
Adult ,medicine.medical_specialty ,Monosomy ,Twins ,Aneuploidy ,Chromosome Disorders ,Biology ,Short stature ,Translocation, Genetic ,Genetics ,medicine ,Humans ,Genetics (clinical) ,Chromosome Aberrations ,Gene Rearrangement ,Gynecology ,Growth retardation ,Psychomotor retardation ,Cytogenetics ,Karyotype ,Gene rearrangement ,medicine.disease ,Phenotype ,Chromosomes, Human, Pair 1 ,Karyotyping ,Female ,medicine.symptom - Abstract
Twin girls with deletion 1p13.3----22.3 are reported. They are characterised by psychomotor retardation, short stature, narrowing of the external auditory meati and abnormalities of the digits. A high resolution analysis revealed the karyotype to be: 46,XX,-1,-4,-9,-18, +der(1)t(1:9) (p22.3;q13)inv(1)(p13.2:q25) del (1)(p13.3----22.3)t(4:18)(4qter----4q32::18q22----1 8qter; 18qter----18q22::4q32----4qter). A phenotype-karyotype correlation study of this case and three others did not support the delineation of a distinct syndrome.
- Published
- 2008