A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family.

ABSTRACT:

Background

Copy number variants (CNVs) associated with developmental delay and intellectual disability (DD/ID) continue to be identified in patients. This article reports identification of a chromosome 1q22 microdeletion as the genetic cause in a Chinese family affected by ID.

Case presentation

The proband was a 19-year-old pregnant woman referred for genetic counseling and prenatal diagnosis at 18 weeks of gestation. She had severe ID with basically normal stature (height 154 cm [0 SD], weight 61 kg [- 0.2 SD], and head circumference 54 cm [- 1.12 SD]). Her distinctive facial features included a prominent forehead; flat face; flat nasal bridge and a short upturned nose; thin lips; and small ears. The proband's father was reported to have low intelligence, whereas her mother

SUBMITTER: Xi H 

PROVIDER: S-EPMC7273683 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature