mosaic trisomy 5
Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.
MONDO:0700012
chromosome 5 disorder
is_a
MONDO:0700065
trisomy
is_a
Mosaic trisomy chromosome 5
exact
Mosaic trisomy type 5
exact
trisomy 5 mosaicism
exact