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Cognitive and medical features of chromosomal aneuploidy

Christa Hutaff-Lee1, Lisa Cordeiro, Nicole Tartaglia

  • 1Department of Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO, USA.

Handbook of Clinical Neurology
|April 30, 2013
PubMed

Insights

Chromosomal aneuploidy conditions, involving extra chromosomes, affect about 1 in 250 children. This overview details their physical, medical, cognitive, and psychological aspects, including common autosomal and sex chromosome disorders.

Area of Science:

  • Genetics
  • Human Biology
  • Medical Science

Background:

  • Chromosomal aneuploidy conditions involve variations in chromosome number.
  • These conditions occur in approximately 1 in 250 children.
  • They encompass a range of genetic disorders affecting physical, cognitive, and psychological development.

Purpose of the Study:

  • To describe the physical characteristics, medical complications, and cognitive/psychological profiles of chromosomal aneuploidy.
  • To provide information on specific autosomal disorders like Down syndrome, Patau syndrome, and Edward syndrome.
  • To cover sex chromosome aneuploidies including Klinefelter syndrome, XYY, trisomy X, and Turner syndrome.

Main Methods:

  • Review of existing literature and clinical data on chromosomal aneuploidy.
  • Compilation of information on physical, medical, cognitive, and psychological aspects.
  • Categorization of disorders into autosomal and sex chromosome aneuploidies.

Main Results:

  • Detailed descriptions of common aneuploidies such as Trisomy 21, 13, 18, Klinefelter syndrome, and Turner syndrome.
  • Information on less frequent tetrasomy and pentasomy conditions.
  • Identification of associated medical complications and psychological profiles.

Conclusions:

  • Chromosomal aneuploidies present diverse physical, medical, and cognitive challenges.
  • Understanding these conditions is crucial for diagnosis, management, and support.
  • Further research is needed to improve treatment and outcomes for affected individuals.

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