46, X,X-X terminal rearrangement /45, X mosaicism in a child with short stature
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 11 (2) , 122-127
- https://doi.org/10.1111/j.1399-0004.1977.tb01289.x
Abstract
A phenotypically female child, investigated because of short stature, had abnormally large, often bipartite Barr bodies and a mosaicism of 45,X cells and cells with 46 chromosome which included an exceptionally large metacentric chromosome (Xp+). G- and C-banding established that the chromosome was derived from 2 substantially entire X chromosomes joined short arm-to-short arm, and was likely to be an isodicentric X with functional inactivation of 1 centromere.This publication has 9 references indexed in Scilit:
- Dicentric human X chromosomesHereditas, 2009
- Fusion of two apparently intact human X chromosomesHuman Genetics, 1976
- Fusion of the short arms of one X chromosome in a patient with gonadal dysgenesisHuman Genetics, 1974
- A simple technique for demonstrating centromeric heterochromatinExperimental Cell Research, 1972
- An abnormal large human chromosome identified as an end‐to‐end fusion of two X's by combined results of the new banding techniques and microdensitometryClinical Genetics, 1972
- Gonadendysgenesie mit ungewöhnlicher Strukturanomalie eines X-Chromosoms (45,X/46,XXq+)Human Genetics, 1972
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971
- Anomalies of development in a girl with unusual sex chromosomal mosaicism.Journal of Medical Genetics, 1967
- Gonadal Dysgenesis with Unusual AbnormalitiesArchives of Disease in Childhood, 1965