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Trisomy 17p
Disease definition
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.
ORPHA:261290
Classification level: Disorder- Synonym(s):
- Dup(17p)
- Prevalence: Unknown
- Inheritance: Not applicable or Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: Q92.2
- OMIM: -
- UMLS: C0795865
- MeSH: C538048
- GARD: 5318
- MedDRA: -
Summary
Epidemiology
It has been described in fewer than 15 patients.
Clinical description
Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor.
Etiology
Trisomy 17p has been reported to be ``pure'', as the result of a de novo 17p duplication or an extra chromosome derived from the 17p arm. It can result from a recombination of a familial pericentric inversion, or from a malsegregation of a translocation, in which case trisomy 17p can be associated with monosomy of the partner chromosome.
Diagnostic methods
Diagnosis is based on standard and molecular karyotyping.
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Polski (2011, pdf)
Detailed information
General public
- Article for general public
- English (2009, pdf) - Unique
- Russian (2009, pdf) - Unique
- Français (2011, pdf) - Unique
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