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.

Smooth philtrum

Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.


Total: 2

                       


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PMID (PMCID)
18327785
 MIXED_SAMPLE Child
The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
Doco-Fenzy M, Holder-Espinasse M, Bieth E, Magdelaine C, Vincent MC, Khoury M, Andrieux J, Zhang F, Lupski JR, Klink R, Schneider A, Goze-Martineau O, Cuisset JM, Vallee L, Manouvrier-Hanu S, Gaillard D, de Martinville B.
Am J Med Genet A. 2008;146A(7):917-24.
The facial features observed in our patients include triangular face, full cheeks, smooth philtrum, thin upper lip, dental malocclusion, irregular eyebrows, and sparse hair, all of which are consistent with the pure proximal dup 17p phenotype.
16835929
 FEMALE Child
Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).
Mikhail FM, McIlvried D, Holt RL, Messiaen L, Descartes MD, Carroll AJ.
Am J Med Genet A. 2006;140(15):1647-54.
She has features consistent with the previously described cases with complete trisomy 17p, including pre- and post-natal growth retardation, motor and mental retardation, skeletal anomalies, clinodactyly of the 5th finger, hypertrichosis, as well as facial characteristics including microcephaly, receding forehead, ptosis, low-set malformed ears, smooth philtrum, high-arched palate, and a short broad neck.