Chromosome 19p13.13 deletion syndrome
Chromosome 19p13.13 deletion syndrome
Definition
19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).
Also known as chromosome 19p13.13 deletion syndrome, Del(19)(p13.13), monosomy 19p13.13 — per MONDO