Monosomy 21
Monosomy 21
Definition
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.
Also known as 21q deletion syndrome, 21q- syndrome, monosomy type 21, partial 21q monosomy — per MONDO