Partial trisomy for the short arm of chromosome 2 due to familial balanced translocation
- 1 January 1978
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 44 (1) , 99-103
- https://doi.org/10.1007/bf00283579
Abstract
A partial trisomy for the short arm of chromosome 2 (p21→pter) was observed in a severely retarded infant with facial, skeletal, genital, renal, and CNS anomalies. The phenotypically normal mother and older brother had a balanced translocation between the short arm of chromosome 2 and the long arm of chromosome 14: 46,XX-XY,t(2;14)(p21;q32).This publication has 6 references indexed in Scilit:
- PARTIAL 2P TRISOMY (P21-]PTER) IN 2 SIBLINGS OF A FAMILY WITH A 2P-15Q+ TRANSLOCATION1978
- The chromosome 2 distal short arm trisomy syndromeThe Journal of Pediatrics, 1977
- The 2p Partial Trisomy SyndromeAmerican Journal of Diseases of Children, 1976
- Gene dosage: evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2.Proceedings of the National Academy of Sciences, 1975
- [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