Trisomy 17p

Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
21274281
(3026978)
 OTHER
Cystic Dilation of the Aqueductus Sylvii in Case of Trisomy 17p11.2-pter with the Deletion of the Terminal Portion of the Chromosome 6.
Horvath E, Sikovanyecz J, Pal A, Kaiser L, Balint BL, Szilard P, Kozinszky Z, Szabo J.
Case Rep Med. 2010;2010:354170.
Phenotypic features of trisomy 17p in fetuses are intrauterine growth retardation, ventriculomegaly, cleft lip and cleft palate, micrognathia, horseshoe kidneys, single umbilical artery, and congenital heart defects.