Tertiary trisomy (22q11q),47,+der(22),t(11;22)
- 1 February 1980
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 53 (2) , 173-177
- https://doi.org/10.1007/bf00273491
Abstract
We describe a case of tertiary trisomy (22q11q) 47,XX,+der(22),(22pter→22q13: : 11q25→11qter) in a child with mental retardation, cleft palate, and congenital heart disease resulting from 3: 1 meiotic nondisjunction in a maternal (11;22) translocation carrier. The clinical findings in previously reported cases are reviewed and compared with the features of reported patients with “partial trisomy 11q” and “trisomy 22” syndromes. Half of the ten reported families had additional balanced translocation carriers who may have an increased risk of having a liveborn child with an MCA/MR syndrome, although none have been reported to date.Keywords
This publication has 25 references indexed in Scilit:
- Trisomy 11q(q21 leads to qter).1978
- The problem of partial trisomy 22 reconsideredHuman Genetics, 1978
- Duplication 11 (q21 to 23 leads to qter) syndrome.1977
- 47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)matHuman Genetics, 1977
- PARTIAL TRISOMY FOR LONG ARM OF CHROMOSOME 11 DUE TO T(11 - 22)(Q231 - Q111) TRANSLOCATION1976
- [2 cases of trisomy 11q(q231--qter) by translocation t(11;22) (q231;q111) in 2 different families].1975
- [Partial trisomy 11q and familial translocation 11--22 (author's transl)].1975
- Quinacrine fluorescence and Giemsa banding in trisomy 22Theoretical and Applied Genetics, 1973
- [Partial trisomy 11q identified by study, with heat controlled denaturation, of the paternal balanced translocation].1972
- Banding in Human Chromosomes treated with TrypsinNature New Biology, 1972