Partial trisomy 4q: Two cases with a familial translocation t(4;18)(q27;q23)
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 47 (3) , 245-251
- https://doi.org/10.1007/bf00321016
Abstract
Clinical and cytogenetic data of two related patients, both trisomic for the segment 4q27→qter, are reported. Familial studies determined that the mothers of the two probands were carriers of the same balanced translocation between chromosomes 4 and 18. Altogether, two partial trisomies 4q, five balanced karyotypes, and one 45,XO karyotype were found in the family. The 18 cases reported to date are reviewed with respect ot the karyotype-phenotype correlation.This publication has 18 references indexed in Scilit:
- Cri-du-chat Syndrome in a child with a 46,XX,der(5),t(4;5)(q32;p14)pat karyotypeHuman Genetics, 1977
- Partial trisomy 4q syndrome: Case report and reviewHuman Genetics, 1976
- Partial trisomy 4q due to familial 2/4 translocationHuman Genetics, 1976
- Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation.Journal of Medical Genetics, 1975
- Uneinheitlicher Phänotyp bei Partialtrisomie 4qHuman Genetics, 1975
- Translocation, t(4q-;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generationJournal of Medical Genetics, 1974
- Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4q?;18q+)Human Genetics, 1974
- Segregating Reciprocal (4;21) (q21;q21) Translocation with Proposita Trisomic for Parts of 4q and 21Journal of Medical Genetics, 1973
- Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations.1972
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971