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A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings.
- Source :
-
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2016 May 01; Vol. 29 (5), pp. 611-6. - Publication Year :
- 2016
-
Abstract
- We report on a 33-year-old patient with mosaic interstitial duplication on chromosome 14q11.2-14q22.1~22.3 with severe physical and mental retardation and multiple dysmorphisms. This patient was admitted to our pediatric hospital due to severe dehydration and malnutrition as a result of food refusal. It is an actual phenomenon that patients with severe inborn clinical problems nowadays survive due to progress and care of modern medicine. Nevertheless, transition from pediatric care to adult medicine seems to remain a challenging problem. We demonstrate the clinical course as well as clinical and genetic findings of this adult patient. Comparisons are made to previously reported cases with mosaic trisomy 14 involving a proximal interstitial duplication on the long arm of chromosome 14.
- Subjects :
- Abnormalities, Multiple pathology
Adult
Child
Chromosomes, Human, Pair 14 genetics
Female
Genotype
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability pathology
Male
Mosaicism
Phenotype
Prognosis
Young Adult
Abnormalities, Multiple genetics
Chromosomes, Human, Pair 6 genetics
Gene Duplication genetics
Intellectual Disability genetics
Trisomy genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2191-0251
- Volume :
- 29
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of pediatric endocrinology & metabolism : JPEM
- Publication Type :
- Academic Journal
- Accession number :
- 26824977
- Full Text :
- https://doi.org/10.1515/jpem-2015-0375