Chromosome 1q41-q42 deletion syndrome
Chromosome 1q41-q42 deletion syndrome
Definition
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
Also known as 1q41q42 microdeletion syndrome, chromosome 1q41-q42 deletion syndrome, chromosome 1q41-q42 deletion syndrome, isolated cases, Del(1)(q41q42), monosomy 1q41-q42, monosomy 1q41q42 — per MONDO