Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency

Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clini...

Source: Molecular Cytogenetics - November 29, 2023 Category: Molecular Biology Authors: Shengfang Qin, Jiuzhi Zeng, Jin Wang, Mengling Ye, Qin Deng, Xueyan Wang, Zhuo Zhang, Dangying Yi, Yang Wu and Jesse Li-Ling Tags: Research Source Type: research