Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH

Adriana Lo-Castro, Grazia Giana, Marco Fichera, Lucia Castiglia, Lucia Grillo, Sebastiano Antonino Musumeci, Cinzia Galasso, Paolo Curatolo

Research output: Contribution to journalArticle

Abstract

We describe a 7-year-old patient with autism, moderate mental retardation, secondary microcephaly, agenesis of right optic nerve, and dysmorphic features carrying a de novo cryptic deletion of chromosome 2p25.2, detected by aCGH. Pure monosomies of 2p are very rare, and are usually observed as part of more complex aberrations involving other chromosomes. To the best of our knowledge, this is the first case presenting with a severe clinical phenotype and a de novo pure deletion of 2p25.2. The phenotypic effects of this rearrangement and the role of SOX11 gene, removed in our case, are herein discussed.

Original languageEnglish
Pages (from-to)67-70
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume52
Issue number1
DOIs
Publication statusPublished - Jan 2009

Fingerprint

Monosomy
Microcephaly
Chromosome Deletion
Optic Nerve
Autistic Disorder
Chromosome Aberrations
Intellectual Disability
Chromosomes
Phenotype
Genes

Keywords

  • 2p Deletion syndrome
  • Array CGH
  • Autism
  • Mental retardation
  • Monosomy 2p

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Deletion 2p25.2 : A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH. / Lo-Castro, Adriana; Giana, Grazia; Fichera, Marco; Castiglia, Lucia; Grillo, Lucia; Musumeci, Sebastiano Antonino; Galasso, Cinzia; Curatolo, Paolo.

In: European Journal of Medical Genetics, Vol. 52, No. 1, 01.2009, p. 67-70.

Research output: Contribution to journalArticle

@article{09c15d845f854ebdb0bd788d13454709,
title = "Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH",
abstract = "We describe a 7-year-old patient with autism, moderate mental retardation, secondary microcephaly, agenesis of right optic nerve, and dysmorphic features carrying a de novo cryptic deletion of chromosome 2p25.2, detected by aCGH. Pure monosomies of 2p are very rare, and are usually observed as part of more complex aberrations involving other chromosomes. To the best of our knowledge, this is the first case presenting with a severe clinical phenotype and a de novo pure deletion of 2p25.2. The phenotypic effects of this rearrangement and the role of SOX11 gene, removed in our case, are herein discussed.",
keywords = "2p Deletion syndrome, Array CGH, Autism, Mental retardation, Monosomy 2p",
author = "Adriana Lo-Castro and Grazia Giana and Marco Fichera and Lucia Castiglia and Lucia Grillo and Musumeci, {Sebastiano Antonino} and Cinzia Galasso and Paolo Curatolo",
year = "2009",
month = "1",
doi = "10.1016/j.ejmg.2008.09.004",
language = "English",
volume = "52",
pages = "67--70",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Masson SAS",
number = "1",

}

TY - JOUR

T1 - Deletion 2p25.2

T2 - A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH

AU - Lo-Castro, Adriana

AU - Giana, Grazia

AU - Fichera, Marco

AU - Castiglia, Lucia

AU - Grillo, Lucia

AU - Musumeci, Sebastiano Antonino

AU - Galasso, Cinzia

AU - Curatolo, Paolo

PY - 2009/1

Y1 - 2009/1

N2 - We describe a 7-year-old patient with autism, moderate mental retardation, secondary microcephaly, agenesis of right optic nerve, and dysmorphic features carrying a de novo cryptic deletion of chromosome 2p25.2, detected by aCGH. Pure monosomies of 2p are very rare, and are usually observed as part of more complex aberrations involving other chromosomes. To the best of our knowledge, this is the first case presenting with a severe clinical phenotype and a de novo pure deletion of 2p25.2. The phenotypic effects of this rearrangement and the role of SOX11 gene, removed in our case, are herein discussed.

AB - We describe a 7-year-old patient with autism, moderate mental retardation, secondary microcephaly, agenesis of right optic nerve, and dysmorphic features carrying a de novo cryptic deletion of chromosome 2p25.2, detected by aCGH. Pure monosomies of 2p are very rare, and are usually observed as part of more complex aberrations involving other chromosomes. To the best of our knowledge, this is the first case presenting with a severe clinical phenotype and a de novo pure deletion of 2p25.2. The phenotypic effects of this rearrangement and the role of SOX11 gene, removed in our case, are herein discussed.

KW - 2p Deletion syndrome

KW - Array CGH

KW - Autism

KW - Mental retardation

KW - Monosomy 2p

UR - http://www.scopus.com/inward/record.url?scp=58149141727&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=58149141727&partnerID=8YFLogxK

U2 - 10.1016/j.ejmg.2008.09.004

DO - 10.1016/j.ejmg.2008.09.004

M3 - Article

C2 - 18992374

AN - SCOPUS:58149141727

VL - 52

SP - 67

EP - 70

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 1

ER -