Partial trisomy 3q
- 1 January 1979
- journal article
- research article
- Published by Springer Science and Business Media LLC in Human Genetics
- Vol. 48 (3), 315-320
- https://doi.org/10.1007/bf00272831
Abstract
A new case of partial trisomy 3q is reported in a 5-year-old female with severe congenital malformations and psychomotor retardation. A review of the literature, with a total of 11 patients, allows us to conclude that the clinical picture reminiscent of the Cornelia de Lange syndrome is caused by the trisomic state.Keywords
This publication has 11 references indexed in Scilit:
- 46,XY, t(3;22)(p2;q13) resuIting in partial trisomy for the short arm of chromosome 3Clinical Genetics, 2008
- Familial transmission of a 3q;22p translocation, with partial trisomy of chromosome 3 in the propositus.1978
- Partial trisomy for the long arm of chromosome 3 [3(q21→qter)+] in a newborn with minor physical stigmataHuman Genetics, 1978
- A case of partial trisomy 3qJournal of Medical Genetics, 1976
- A cytogenetic study of human spontaneous abortions using banding techniquesHuman Genetics, 1976
- Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).1975
- [Partial trisomy for the distal part of the short branch of chromosome 3].1974
- An unusual chromosomal segregation in a family with a translocation between chromosomes 3 and 12Journal of Medical Genetics, 1974
- [Trisomy for the distal part of the short arm of the number 3 chromosome in 3 siblings. First example of chromosomal insertion: INS(7;3)(q 31;p 21 p 26)].1972
- FAMILIAL DE LANGE SYNDROME WITH CHROMOSOME ABNORMALITIESPediatrics, 1966