Chromosome 19q13.11 deletion syndrome
Chromosome 19q13.11 deletion syndrome
Definition
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.
Also known as 19q13.11 microdeletion syndrome, Del(19)(q13.11), monosomy 19q13.11 — per MONDO