PMID- 18779147
OWN - NLM
STAT- MEDLINE
DCOM- 20090317
LR  - 20190923
IS  - 0253-9772 (Print)
IS  - 0253-9772 (Linking)
VI  - 30
IP  - 8
DP  - 2008 Aug
TI  - [A girl with partial monosomy 18q21: cytogenetic and molecular genetics studies].
PG  - 991-5
AB  - 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.
FAU - Lu, Hong-Yong
AU  - Lu HY
AD  - Medical Technology School of Jiangsu University, Zhenjiang 212013, China. 
      lu_lhy@163.com
FAU - Cui, Ying-Xia
AU  - Cui YX
FAU - Shi, Yi-Chao
AU  - Shi YC
FAU - Xia, Xin-Yi
AU  - Xia XY
FAU - Yang, Bin
AU  - Yang B
FAU - Yao, Bing
AU  - Yao B
FAU - Huang, Yu-Feng
AU  - Huang YF
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Yi Chuan
JT  - Yi chuan = Hereditas
JID - 9436478
SB  - IM
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - Cytogenetics/*methods
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/genetics
MH  - Karyotyping
MH  - Motor Activity/genetics
EDAT- 2008/09/10 09:00
MHDA- 2009/03/18 09:00
CRDT- 2008/09/10 09:00
PHST- 2008/09/10 09:00 [pubmed]
PHST- 2009/03/18 09:00 [medline]
PHST- 2008/09/10 09:00 [entrez]
AID - 0253-9772(2008)08-992-05 [pii]
AID - 10.3724/sp.j.1005.2008.00991 [doi]
PST - ppublish
SO  - Yi Chuan. 2008 Aug;30(8):991-5. doi: 10.3724/sp.j.1005.2008.00991.