title: [Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter].
abstract: 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.
authors.affiliation: National Laboratory of Medical Genetics, Central South University, Changsha 410078, China.
authors.forename: De-Sheng
authors.initials: DS
authors.lastname: Liang
authors.forename: Ling-Qian
authors.initials: LQ
authors.lastname: Wu
authors.forename: Fang
authors.initials: F
authors.lastname: Cai
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Zhi-Gao
authors.initials: ZG
authors.lastname: Long
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: He-Ping
authors.initials: HP
authors.lastname: Dai
authors.forename: Jia-Hui
authors.initials: JH
authors.lastname: Xia
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy