Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).

Abstract

We report on an 8-year-old girl with near-complete trisomy 17p syndrome due to a de novo unbalanced t(14;17)(p11.2;p11.2). 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. Fluorescence in situ hybridization showed that the breakpoints were p11.2 for both chromosome 14 and 17. Microsatellite analysis showed that the duplicated 17p was of paternal origin, and indicated that the breakpoint involving 17p11.2 is most likely located within the approximately 1-Mb segment from the centromere, and not involving the proximal Smith-Magenis syndrome (SMS) low copy repeat. We compare the clinical features of our patient with those previously reported to further delineate the phenotype of complete trisomy 17p syndrome.

• Authors: Fady M Mikhail, Dawn McIlvried, R Lynn Holt, Ludwine Messiaen, Maria D Descartes, Andrew J Carroll
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 140 Issue 15 Pg. 1647-54 (Aug 01 2006) ISSN: 1552-4825 [Print] United States
• PMID: 16835929 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2006 Wiley-Liss, Inc.

Topics

• Child
• Chromosome Banding
• Chromosomes, Human, Pair 14
• Chromosomes, Human, Pair 17
• Cytogenetics
• Female
• Genotype
• Humans
• In Situ Hybridization, Fluorescence
• Microsatellite Repeats (genetics)
• Models, Genetic
• Phenotype
• Syndrome
• Translocation, Genetic
• Trisomy (diagnosis, genetics)