Monosomi 21
Engelsk navn: 21q deletion syndrome
Engelske synonym: 21q- syndrome,Partial 21q monosomy
Definisjon
Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.
Fra Orphanet
ORPHA: 574
Klassifiseringsnivå: Disorder
ICD-10: Q93.0