Distal monosomy 10q
Engelsk navn: Distal deletion 10q
Engelske synonym: Deletion 10qter,Distal monosomy 10q,Monosomy 10qter,Telomeric deletion 10q
Definisjon
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.
Fra Orphanet
ORPHA: 96148
Klassifiseringsnivå: Disorder
ICD-10: Q93.5