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19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update.

Authors
  • Nacinovich, Renata1, 2
  • Villa, Nicoletta3
  • Broggi, Fiorenza1, 2
  • Tavaniello, Cristina1
  • Bomba, Monica1
  • Conconi, Donatella2
  • Redaelli, Serena2
  • Sala, Elena3
  • Lavitrano, Marialuisa2
  • Neri, Francesca1, 2
  • 1 Childhood and Adolescence Neuropsychiatric Unit, San Gerardo Hospital.
  • 2 School of Medicine and Surgery, University of Milano Bicocca.
  • 3 Medical Genetics Laboratory, Clinical Pathology Department, San Gerardo Hospital, Monza, Italy. , (Italy)
Type
Published Article
Journal
Neuropsychiatric Disease and Treatment
Publisher
Dove Medical Press
Publication Date
Jan 01, 2017
Volume
13
Pages
2545–2550
Identifiers
DOI: 10.2147/NDT.S142356
PMID: 29042784
Source
Medline
Keywords
License
Unknown

Abstract

Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients' quality of life. We report a 10-year neuropsychiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication. This study could be a model for further long-term research in the neuropsychiatric follow-up of patients with 19q duplication syndrome.

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