mosaic trisomy 12
Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.
MONDO:0700019
chromosome 12 disorder
is_a
MONDO:0700065
trisomy
is_a
Mosaic trisomy chromosome 12
exact
Mosaic trisomy type 12
exact
trisomy 12 mosaicism
exact