Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.

ABSTRACT:

Background

Fragile X syndrome is the most common genetic disorder of intellectual developmental disorder/mental retardation (IDD/MR). The prevalence of FXS in a Chinese IDD children seeking diagnosis/treatment in mainland China is unknown.

Methods

Patients with unknown moderate to severe IDD were recruited from two children's hospitals. Informed consent was obtained from the children's parents. The size of the CGG repeat was identified using a commercial TP-PCR assay. The influence of AGG interruptions on the CGG expansion during maternal transmission was analyzed in 24 mother-son pairs (10 pairs with 1 AGG and 14 pairs with 2 AGGs).

Results

553 unrelated patients between six months and eighteen years of age were recruited. Specimens from 540 patients (male:female = 5

SUBMITTER: Chen X 

PROVIDER: S-EPMC4502947 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature