Chromosome 1p36 deletion syndrome
Chromosome 1p36 deletion syndrome
Definition
A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
Also known as 1p telomere deletion syndrome, 1p36 deletion syndrome, 1p36 microdeletion syndrome, chromosome 1p36 deletion syndrome, distal, isolated cases, Del(1)(p36), deletion 1p36, deletion 1pter, monosomy 1p36, monosomy 1pter, subtelomeric 1p36 deletion — per MONDO