Ontology highlight
ABSTRACT:
SUBMITTER: Ballout RA
PROVIDER: S-EPMC7292747 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Ballout Rami A RA Dickerson Cheryl C Wick Myra J MJ Al-Sweel Najla N Openshaw Amanda S AS Srivastava Siddharth S Swanson Lindsay C LC Bramswig Nuria C NC Kuechler Alma A Hong Bo B Fleming Leah R LR Curry Kathryn K Robertson Stephen P SP Andersen Erica F EF El-Hattab Ayman W AW
Human mutation 20200312 7
Int22h1/Int22h2-mediated Xq28 duplication syndrome is a relatively new X-linked intellectual disability syndrome, arising from duplications of the subregion flanked by intron 22 homologous regions 1 and 2 on the q arm of chromosome X. Its primary manifestations include variable cognitive deficits, distinct facial dysmorphia, and neurobehavioral abnormalities that mainly include hyperactivity, irritability, and autistic behavior. Affected males are hemizygous for the duplication, which explains t ...[more]