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Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior

  • ,
  • Rocío Ortíz-López
    ,
  • Alfredo Rizo-Méndez
    ,
  • Viridiana García-Molina
    ,
  • Sandra K. Santuario-Facio
    ,
  • Fernando Rivas
  • Hospital Universitario Dr. Jose Eleuterio Gonzalez
    ,
  • Universidad de Guadalajara
    ,
  • Hospital General de Occidente
Research Output:
Contribution to journal
Article
Peer-review

Publication metrics

Metrics

Scopus
Citations
SciVal
Citations
11
SciVal
FWCI
0.31
SciVal
Author count
7
SciVal
Paper percentile
45

Abstract

This article describes a 19-year-old female with mild facial dysmorphism, asociality, decreased school performance, and psychotic behavior in whom the karyotype showed an extra-chromosomal marker characterized as 9p24.3-9q21.11 duplication by array-CGH. The 69. Mbp duplicated segment in this patient includes the critical 9p duplication syndrome region, the GLDC and C90RF72 genes associated with psychotic behavior and other conduct disorders, and a potential locus for autism.

Publication Information

Output type

Research Output:
Contribution to journal
Article
Peer-review

Original language

English

Pages from-to (Number of pages)

Pages 124-127 (4 pages)

Journal (Volume, Issue Number)

Gene (Volume 560, Issue 1)

Publication milestones

  • Published - 10/04/2015

Publication status

Published - 10/04/2015

ISSN

0378-1119

Publication IDs

  • Scopus: 84923103565
  • WOS: 000350927100018