Partial trisomy 21
- 1 November 1980
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 18 (5) , 392-395
- https://doi.org/10.1111/j.1399-0004.1980.tb02300.x
Abstract
This report presents and 18 1/2-year-old patient with clinical features of Down syndrome and severe mental retardation due to partial trisomy 21. Cytogenetic studies using Giemsa banding chromosomes revealed translocation of the 21q21 qter segment onto the short arms of chromosome #8 (46,XY,--8, + t(8qter 8p23::21q21 21 qter)). It is recommended that patients with features of Down syndrome whose chromosome analysis was done prior to introduction of banding studies undergo repeat karyotyping.Keywords
This publication has 17 references indexed in Scilit:
- Down syndrome due to partial trisomy 21qClinical Genetics, 2008
- Partial trisomy 21Human Genetics, 1977
- Localization of the Gene AVG for the Antiviral Expression of Immune and Classical Interferon to the Distal Portion of the Long Arm of Chromosome 21The Journal of Infectious Diseases, 1976
- Mechanisms of chromosome bandingChromosoma, 1975
- Partial trisomy 21Clinical Genetics, 1973
- Cytogenetics of Down’s Syndrome (Mongolism) I. Data on a Consecutive Series of Patients Referred for Genetic Counselling and DiagnosisCytogenetic and Genome Research, 1965
- Langdon Down Anomaly (Mongolism) with 21/21 Translocation and Klinefelter’s Syndrome in the same SibshipCytogenetic and Genome Research, 1962
- The Chromosomes of ManNature, 1956
- MAMMALIAN CHROMOSOMES IN VITROJournal of Heredity, 1952
- Some Effects of Abnormal Tonicity on Dividing Cells in Chick Tissue CulturesJournal of Cell Science, 1952