distal trisomy 19q
Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.
MONDO:0016969
partial duplication of the long arm of chromosome 19
is_a
distal duplication 19q
exact
distal trisomy type 19q
exact
telomeric duplication 19q
exact
trisomy 19qter
exact