Trisomy 12p

A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.

Genu valgum

The legs angle inward, such that the knees are close together and the ankles far apart.


Total: 2

                       


(per page)
PMID (PMCID)
148983
 MIXED_SAMPLE Infant
Trisomy 12p syndrome. Evaluation of a family with a t(12;21) (p12.1;p11) translocation with unbalanced offspring.
Hansteen IL, Schirmer L, Hestetun S.
Clin Genet. 1978;13(4):339-49.
Our two cases of trisomy 12p (ter leads to 12.1) were compared with eight cases of trisomy 12p described earlier, and the following common characteristics were found: severe mental and physical retardation; flat and round, broad face with prominent cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or slanting ears, poorly formed with folded helix, prominent antihelix and deep concha; short neck; short sternum; "spade"-shaped fingers, the fifth being short; bilateral genu valgum; bilateral pes planus and talus valgus; increased space between the first and second toes; generalized hypotonia; and certain dermatoglyphic characteristics.
148983
 MIXED_SAMPLE Infant
Trisomy 12p syndrome. Evaluation of a family with a t(12;21) (p12.1;p11) translocation with unbalanced offspring.
Hansteen IL, Schirmer L, Hestetun S.
Clin Genet. 1978;13(4):339-49.
Our two cases of trisomy 12p (ter leads to 12.1) were compared with eight cases of trisomy 12p described earlier, and the following common characteristics were found: severe mental and physical retardation; flat and round, broad face with prominent cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or slanting ears, poorly formed with folded helix, prominent antihelix and deep concha; short neck; short sternum; "spade"-shaped fingers, the fifth being short; bilateral genu valgum; bilateral pes planus and talus valgus; increased space between the first and second toes; generalized hypotonia; and certain dermatoglyphic characteristics.