Cytogenetic and clinical analysis of a patient with partial trisomy 5p
10.3969/j.issn.1673-4130.2015.12.017
- VernacularTitle:5p部分三体综合征的临床及细胞遗传学分析
- Author:
Xiaoyan ZHANG
;
Rungui XIE
;
Shundi WEI
;
Xiaoxuan HE
;
Yanhui LIU
- Publication Type:Journal Article
- Keywords:
partial trisomy 5p;
karyotype analysis;
mental retardation
- From:
International Journal of Laboratory Medicine
2015;(12):1678-1679
- CountryChina
- Language:Chinese
-
Abstract:
Objective To further explore the relationship between increasing genetic material and clinical manifestation of partial trisomy 5p .Methods G‐banding karyotypes of peripheral blood lymphocytes in the patient and his parents ,and at the same time to summary the partial trisomy 5p clinical performance .Results patient ,46 ,XX ,der(6)t(5 ;6)(p13;q25) mat ;partial trisomy for 5p13→pter resulting from the balanced translocation of the mother .Mother:46 ,XX ,t(5;6)(p13 ;q25);carrier of a balanced 5/6 translocation .Father :46 ,XY .Conclusion The phenotype of trisomy 5p may be associated with express and function of gene at spe‐cial chromosome region .
