A jumping Robertsonian translocation: a molecular and cytogenetic study |
| |
Authors: | S. J. Gross Avirachan T. Tharapel Owen P. Phillips L. P. Shulman Enikö K. Pivnick V. M. Park |
| |
Affiliation: | (1) Department of Obstetrics and Gynecology, University of Tennessee, Memphis, 711 Jefferson Avenue, Room 429, Memphis, TN 38163, USA Tel.: +1-901-448-7174; Fax: +1-901-448-8476; email: vpark@utmem1.utmem.edu, US;(2) Department of Pediatrics, University of Tennessee, Memphis, 711 Jefferson Avenue, Memphis, TN 38163, USA, US |
| |
Abstract: | We report a patient with mosaicism for two different Robertsonian translocations, both involving chromosome 21. She carries an unbalanced cell line with an i(21q) and a balanced cell line with a rob(21q22q). She is phenotypically normal but has two children who inherited the i(21q) and have Down syndrome. We demonstrate that both abnormal chromosomes are dicentric and that the proband’s 21/21 rearrangement is an isochromosome formed from a maternally derived chromosome 21. We propose a model in which the i(21q) is the progenitor rearrangement in the proband, which subsequently participated in a nonreciprocal rearrangement characteristic of a jumping translocation. In addition, we review other cases of constitutional mosaicism involving jumping translocations. Received: 4 October 1995 / Revised: 14 February 1996 |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|