Chromosomal abnormalities

Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46.

A chromosome anomaly, abnormality, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA.

DiGeorge syndrome, also known as 22q11.

The Philadelphia chromosome or Philadelphia translocation is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myelogenous leukemia (CML) cells).

Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.

22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 22.

49, XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality.

Pallister–Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an extremely rare genetic disorder occurring in humans.

A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two.

Beckwith–Wiedemann syndrome (/ˈbɛkˌwɪθ ˈviːdə.mən/; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features.

Derivative 22 syndrome, or der(22), is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects.

45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a rare disorder of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome.