PMID- 15759858
OWN - NLM
STAT- MEDLINE
DCOM- 20071009
LR  - 20111117
IS  - 0379-4172 (Print)
IS  - 0379-4172 (Linking)
VI  - 32
IP  - 2
DP  - 2005 Feb
TI  - [Phenotype positioning on chromosomes in a patient with the syndrome of partial 
      trisomy 7p21.2-->pter].
PG  - 124-9
AB  - By using the techniques of human chromosome G-banding, high resolution banding 
      and fluorescence in situ hybridization (FISH), we investigated a patient with the 
      karyotype of partial trisomy 7p21.2-->pter. Combining with the comparative review 
      of the clinical data in 14 cases with partial trisomy 7p syndrome from reported 
      literatures,we searched for the correlation between the karyotype and the 
      phenotype and between the karyotype and the associated gene in the patients with 
      partial trisomy 7p syndrome. The results indicated that the 7p21.2-->p22 is the 
      critical segment of partial trisomy 7p syndrome. The phenotypes of the genital 
      malformation and the dislocation of hip joint are associated with the duplication 
      of 7p15. The cardiac anomalies is resulted from the dysfunctions of several genes 
      on the long arm of chromosome 7. The gene associated with the craniosynostosis 
      may locate on the region of 7p21.2-->p21.3.
FAU - Liang, De-Sheng
AU  - Liang DS
AD  - National Laboratory of Medical Genetics, Central South University, Changsha 
      410078, China.
FAU - Wu, Ling-Qian
AU  - Wu LQ
FAU - Cai, Fang
AU  - Cai F
FAU - Xia, Kun
AU  - Xia K
FAU - Long, Zhi-Gao
AU  - Long ZG
FAU - Pan, Qian
AU  - Pan Q
FAU - Dai, He-Ping
AU  - Dai HP
FAU - Xia, Jia-Hui
AU  - Xia JH
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - China
TA  - Yi Chuan Xue Bao
JT  - Yi chuan xue bao = Acta genetica Sinica
JID - 7900784
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Craniosynostoses/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Male
MH  - Phenotype
MH  - Syndrome
MH  - *Trisomy
RF  - 13
EDAT- 2005/03/12 09:00
MHDA- 2007/10/10 09:00
CRDT- 2005/03/12 09:00
PHST- 2005/03/12 09:00 [pubmed]
PHST- 2007/10/10 09:00 [medline]
PHST- 2005/03/12 09:00 [entrez]
PST - ppublish
SO  - Yi Chuan Xue Bao. 2005 Feb;32(2):124-9.