Intellectual Disability and Parenthood

Aneuploidy and Intellectual Disability

Aneuploidy is the presence of an abnormal number of chromosomes in cells. The gain or loss of a chromosome in germ cells is the most common cause of chromosomal aneuploidy. Trisomy 21, trisomy 18, and trisomy 13 are characterized by congenital anomalies with intellectual disability (ID) or short lives. Recently, mosaic variegated aneuploidy (the presence of a different number of chromosomes in ...

Inv21p12q22del21q22 and intellectual disability.

Chromosomal rearrangements are common in humans. Pericentric inversions are among the most frequent aberrations (1-2%). Most inversions are balanced and do not cause problems in carriers unless one of the breakpoints disrupts important functional genes, has near submicroscopic copy number variants or hosts "cryptic" complex chromosomal rearrangements. Pericentric inversions can lead to imbalanc...

Genomics, intellectual disability, and autism.

From the Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle (H.C.M.); and the Departments of Integrative Systems Biology and Pediatrics, Children’s National Medical Center, and George Washington University School of Medicine (M.L.B., E.P.H.) — both in Washington, DC. Address reprint requests to Dr. Mefford at the Department of Pediatrics, 1959 NE Pacific S...

Fruit flies and intellectual disability

Mental retardation—known more commonly nowadays as intellectual disability—is a severe neurological condition affecting up to 3% of the general population. As a result of the analysis of familial cases and recent advances in clinical genetic testing, great strides have been made in our understanding of the genetic etiologies of mental retardation. Nonetheless, no treatment is currently clinical...

Intellectual disability (mental retardation).