A 15q25.2 microdeletion phenotype for premature ovarian failure in a Chinese girl: a case report and review of literature.

ABSTRACT:

Background

Proximal microdeletions on chromosome 15q25.2 are very rare, and are associated with neurodevelopmental delay, inguinal hernia, chest deformities, and anemia. The minimum length missed so far is 1.4 Mb. However, there were no cases reported till date on microdeletions at position q25.2 on chromosome 15 with premature ovarian failure (POF).

Case presentation

We herein reported a POF case characterized by short stature with only 0.447 Mb deletion on chromosome 15q25.2. The clinical and molecular characteristics in our patient showed the slightest clinical manifestations, with no clinical signs of neurodevelopmental delay, inguinal hernia, chest deformities, and anemia when compared to the previously reported cases. The microdeletions in our case included only 7 gene

SUBMITTER: Chen Z 

PROVIDER: S-EPMC7487592 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature