mosaic trisomy 17
Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.
MONDO:0020583
chromosome 17 disorder
is_a
MONDO:0700065
trisomy
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Mosaic trisomy chromosome 17
exact
Mosaic trisomy type 17
exact
chromosome 17 duplication
related
chromosome 17 trisomy
related
chromosome 17, trisomy
related
chromosome 17, trisomy mosaicism
related
trisomy 17
related
trisomy 17 mosaicism
exact