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Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication
- Source :
- Biomedical Papers, Vol 159, Iss 2, Pp 333-337 (2015)
- Publication Year :
- 2015
- Publisher :
- Palacký University Olomouc, Faculty of Medicine and Dentistry, 2015.
-
Abstract
- Background: Chromosomal duplications involving 17p13.3 have recently been defined as a new distinctive syndrome with several diagnosed patients. Some variation is known to occur in the breakpoints of the duplicated region and, consequently, in the phenotype as well. Aims: We report on a patient, the fifth to our knowledge, a 4-year-old girl with a pure de novo subtelomeric 17p13.2-pter duplication. She presents all of the facial features described so far for this duplication and in addition, a unilateral palmar transversal crease and oculocutaneous albinism which has not been reported previously. Methods: A detailed molecular description of the reported aberration and correlation with the observed phenotypical features based on a literature review. We discuss the possible molecular etiology of albinism in regard to the mode of inheritance. Conclusion: The new data provided here may be useful for further genotype correlations in syndromes with oculocutaneous albinism, especially of autosomal dominant inheritance.
- Subjects :
- Genetics
chromosomal duplication
Breakpoint
lcsh:R
lcsh:Medicine
albinism
Biology
medicine.disease
Subtelomere
Oculocutaneous albinism
Phenotype
General Biochemistry, Genetics and Molecular Biology
Albinism, Oculocutaneous
Child, Preschool
Chromosome Duplication
Genotype
Gene duplication
medicine
Albinism
Etiology
17p13.3
Humans
Female
Chromosomes, Human, Pair 19
In Situ Hybridization, Fluorescence
Subjects
Details
- Language :
- English
- ISSN :
- 18047521 and 12138118
- Volume :
- 159
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Biomedical Papers
- Accession number :
- edsair.doi.dedup.....982ee4909a67b8575326338387b2d4e4