Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study
Jiao Tong, Xu Chen, Tao Wang, Shan Ma, Yali Zhao, Dongdong Shi, Xin Wang, Dongmei Yan · 2026
Read Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study by Jiao Tong, Xu Chen, Tao Wang, Shan Ma, Yali Zhao, Dongdong Shi, Xin Wang, Dongmei Yan (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13597060.txt.
Description
Jiao Tong and co-authors follow one Chinese child with a rare brain malformation for six years, in a 2026 case study. The condition, isolated lissencephaly, leaves the brain surface too smooth and stems here from a small deletion on chromosome 17. Gene tests on the child and family pinpointed the loss, which took in one key gene but spared two neighbors.
Growth slowed year by year: height and weight scores fell from near normal at two months to well below average by age five. Scores fell across all five development areas, though the pace of decline eased over time. The team offers the record as a guide for early care.
Catalog record
| CREATOR | Jiao Tong, Xu Chen, Tao Wang, Shan Ma, Yali Zhao, Dongdong Shi, Xin Wang, Dongmei Yan |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 45 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |