Direct duplication 2p14?2p23
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 48 (2) , 241-244
- https://doi.org/10.1007/bf00286910
Abstract
A malformed male newborn was first diagnosed as having Smith-Lemli-Opitz syndrome. Extensive cytogenetic studies, including Q, G, C, R and T banding and BudR treatment, were applied, finally leading the authors to conclude that the patient had a partial 2p trisomy caused by direct duplication 2p14→2p23. This was a de novo chromosome abnormality, as both parents had normal karyotypes.Keywords
This publication has 4 references indexed in Scilit:
- The 2p Partial Trisomy SyndromeAmerican Journal of Diseases of Children, 1976
- [Equilibrated 2-14 translocation in a mother and partial trisomy of a pair of the short branches of a number 2 chromosome in 2 of her children].1974
- Famili re 2/C-Translokation: 46,XY t (2p-; Cp+) und 46,XX Cp+Human Genetics, 1969