[A girl with partial monosomy 18q21: cytogenetic and molecular genetics studies].
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.
Lu
Hong-Yong
HY
Medical Technology School of Jiangsu University, Zhenjiang 212013, China. lu_lhy@163.com
Cui
Ying-Xia
YX
Shi
Yi-Chao
YC
Xia
Xin-Yi
XY
Yang
Bin
B
Yao
Bing
B
Huang
Yu-Feng
YF
D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D009043:Motor Activity / Q000235:genetics