De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).
- 1 February 1984
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 21 (1) , 57-58
- https://doi.org/10.1136/jmg.21.1.57
Abstract
A child is described with a de novo direct duplication of the region 2q11 X 2 leads to 2q14 X 2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.Keywords
This publication has 3 references indexed in Scilit:
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- Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.Journal of Medical Genetics, 1980
- Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivationHuman Genetics, 1980