Open AccessA girl with partial monosomy 18q21: cytogenetic and molecular genetics studies
Author(s) -
HongYong Lu,
YingXia Cui,
Yichao Shi,
Xinyi Xia,
Bin Yang,
Bing Yao,
Yufeng Huang
Publication year - 2008
Publication title -
yichuan
Language(s) - English
Resource type - Journals
ISSN - 0253-9772
DOI - 10.3724/sp.j.1005.2008.00991
Subject(s) - monosomy , karyotype , fluorescence in situ hybridization , chromosome 18 , biology , genetics , gene mapping , chromosome , girl , gene , molecular cytogenetics , microbiology and biotechnology
This study is about a girl with chromosome deletion of 18q and with mental retardation and mild delay of physical development. Based on karyotyping of high resolution, fluorescence in situ hybridization (FISH) and microsatellite analysis mapping to 18q, we found that the patient's karyotype was interpreted as 46,XX,del(18).(pter-->q21:), ish del(18)(D18Z1+,qter-). Detection of D18S979 showed that the region from 18q21.1 to 18qter was deleted, which was originated from her father. There were MBP gene and GALNR gene in the deleted interval in which both of them were lost. In conclusion, deletion of 18q21-->qter including the MBP gene and GALNR gene should be responsible for her mental retardation and mild delay of development.