Home Medicine A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings
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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

  • Bardo Wannenmacher EMAIL logo , Diana Mitter , Franziska Kießling , Thomas Liehr , Anja Weise , Manuela Siekmeyer and Wieland Kiess
Published/Copyright: January 29, 2016
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 29 Issue 5

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.

Keywords: dehydration; delayed development; mosaic; proximal trisomy 14q; short statue; transition to adult medicine
Corresponding author: Dr. med. Bardo Wannenmacher, Department of Pediatric Cardiology, Heart Center Leipzig, Strümpellstr. 39, 04289 Leipzig, Germany, Phone: 0049-341-8651036, Fax: 0049-341-8651143, E-mail:

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2015-9-16
Accepted: 2015-12-11
Published Online: 2016-1-29
Published in Print: 2016-5-1

©2016 by De Gruyter

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  4. Original Articles
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  6. Safety and metabolic impact of Ramadan fasting in children and adolescents with type 1 diabetes
  7. Waist-to-height ratio as a marker of low-grade inflammation in obese children and adolescents
  8. Classification and clinical characterization of metabolically “healthy” obese children and adolescents
  9. Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia – effect on median Phe/Tyr ratios
  10. Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism
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  14. Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family
  15. Pituitary gigantism: a retrospective case series
  16. Case Reports
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  18. A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome
  19. A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings
  20. Familial Turner syndrome: the importance of information
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https://doi.org/10.1515/jpem-2015-0375
Keywords for this article
dehydration; delayed development; mosaic; proximal trisomy 14q; short statue; transition to adult medicine

Articles in the same Issue

  1. Frontmatter
  2. Review
  3. Resistance to thyroid hormone α, revelation of basic study to clinical consequences
  4. Original Articles
  5. Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach
  6. Safety and metabolic impact of Ramadan fasting in children and adolescents with type 1 diabetes
  7. Waist-to-height ratio as a marker of low-grade inflammation in obese children and adolescents
  8. Classification and clinical characterization of metabolically “healthy” obese children and adolescents
  9. Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia – effect on median Phe/Tyr ratios
  10. Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism
  11. Prevalence and clinical features of polycystic ovarian syndrome in adolescents with previous childhood growth hormone deficiency
  12. Urate crystals deposition in the feet of overweight juveniles and those with symptomatic hyperuricemia: a dual-energy CT study
  13. A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome
  14. Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family
  15. Pituitary gigantism: a retrospective case series
  16. Case Reports
  17. A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency
  18. A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome
  19. A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings
  20. Familial Turner syndrome: the importance of information
  21. De novo mutation of PHEX in a type 1 diabetes patient
  22. Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase
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