trisomy 12p
true
ICD10:Q92.3
GARD:0005305
Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.
UMLS:C0795845
MESH:C538299
chromosome 12p duplication
Trisomy 12p is a chromosomal abnormality that results in developmental delay, intellectual impairment and a number of dysmorphic features including turricephaly, a flattened occiput, short neck, rounded facies with prominent cheeks, high prominent forehead, hypertelorism, epicanthic folds, broad nasal bridge and other facial dysmorphism. Cardiac and limb defects may occur. Structural brain abnormalities include polymicrogyria and focal cortical dysplasia. Seizures are often generalized, with myoclonic absences and myoclonic seizures reported, EEGs have shown 3Hz generalized spike-and-wave.
Orphanet:1699
MONDO:0015723
12p duplication
trisomy type 12p
12p trisomy
Duplication 12p
partial trisomy 12p
chromosomal anomaly