Breakpoint localization using array-CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS)

Lawrence D. Shriberg, Kathy J. Jakielski, Hatem El-Shanti

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

We report clinical, cytogenetic, and comparative genomic hybridization findings for three siblings with an unbalanced 4q;16q translocation, minor malformations, and cognitive abnormalities, including childhood apraxia of speech, a rare, severe motor speech disorder. Breakpoint findings indicate that in addition to possible contributions from duplicated genes on chromosome 16, haploinsufficiency of one or more of 11 genes deleted in the telomeric region of the long arm of chromosome 4 is the likely cause of the speech disorder, the associated impairments in cognition and language, and the dysmorphic features. The present findings are the first to document childhood apraxia of speech in a multiplex family using contemporary speech measures. We suggest that genotype-phenotype studies of childhood apraxia of speech occurring in complex neurodevelopmental disorders can elucidate the pathophysiology of this disorder.

Original languageEnglish
Pages (from-to)2227-2233
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number17
DOIs
Publication statusPublished - 1 Sep 2008
Externally publishedYes

Fingerprint

Apraxias
Speech Disorders
Haploinsufficiency
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 4
Comparative Genomic Hybridization
Cytogenetics
Cognition
Genes
Language
Genotype
Phenotype

Keywords

  • Articulatory apraxia
  • Chromosome translocation
  • FOXP2
  • Language disorder
  • Speech disorder

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Breakpoint localization using array-CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS). / Shriberg, Lawrence D.; Jakielski, Kathy J.; El-Shanti, Hatem.

In: American Journal of Medical Genetics, Part A, Vol. 146, No. 17, 01.09.2008, p. 2227-2233.

Research output: Contribution to journalArticle

@article{aed67070da904788bfbea2ae30164344,
title = "Breakpoint localization using array-CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS)",
abstract = "We report clinical, cytogenetic, and comparative genomic hybridization findings for three siblings with an unbalanced 4q;16q translocation, minor malformations, and cognitive abnormalities, including childhood apraxia of speech, a rare, severe motor speech disorder. Breakpoint findings indicate that in addition to possible contributions from duplicated genes on chromosome 16, haploinsufficiency of one or more of 11 genes deleted in the telomeric region of the long arm of chromosome 4 is the likely cause of the speech disorder, the associated impairments in cognition and language, and the dysmorphic features. The present findings are the first to document childhood apraxia of speech in a multiplex family using contemporary speech measures. We suggest that genotype-phenotype studies of childhood apraxia of speech occurring in complex neurodevelopmental disorders can elucidate the pathophysiology of this disorder.",
keywords = "Articulatory apraxia, Chromosome translocation, FOXP2, Language disorder, Speech disorder",
author = "Shriberg, {Lawrence D.} and Jakielski, {Kathy J.} and Hatem El-Shanti",
year = "2008",
month = "9",
day = "1",
doi = "10.1002/ajmg.a.32363",
language = "English",
volume = "146",
pages = "2227--2233",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "17",

}

TY - JOUR

T1 - Breakpoint localization using array-CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS)

AU - Shriberg, Lawrence D.

AU - Jakielski, Kathy J.

AU - El-Shanti, Hatem

PY - 2008/9/1

Y1 - 2008/9/1

N2 - We report clinical, cytogenetic, and comparative genomic hybridization findings for three siblings with an unbalanced 4q;16q translocation, minor malformations, and cognitive abnormalities, including childhood apraxia of speech, a rare, severe motor speech disorder. Breakpoint findings indicate that in addition to possible contributions from duplicated genes on chromosome 16, haploinsufficiency of one or more of 11 genes deleted in the telomeric region of the long arm of chromosome 4 is the likely cause of the speech disorder, the associated impairments in cognition and language, and the dysmorphic features. The present findings are the first to document childhood apraxia of speech in a multiplex family using contemporary speech measures. We suggest that genotype-phenotype studies of childhood apraxia of speech occurring in complex neurodevelopmental disorders can elucidate the pathophysiology of this disorder.

AB - We report clinical, cytogenetic, and comparative genomic hybridization findings for three siblings with an unbalanced 4q;16q translocation, minor malformations, and cognitive abnormalities, including childhood apraxia of speech, a rare, severe motor speech disorder. Breakpoint findings indicate that in addition to possible contributions from duplicated genes on chromosome 16, haploinsufficiency of one or more of 11 genes deleted in the telomeric region of the long arm of chromosome 4 is the likely cause of the speech disorder, the associated impairments in cognition and language, and the dysmorphic features. The present findings are the first to document childhood apraxia of speech in a multiplex family using contemporary speech measures. We suggest that genotype-phenotype studies of childhood apraxia of speech occurring in complex neurodevelopmental disorders can elucidate the pathophysiology of this disorder.

KW - Articulatory apraxia

KW - Chromosome translocation

KW - FOXP2

KW - Language disorder

KW - Speech disorder

UR - http://www.scopus.com/inward/record.url?scp=51449089026&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=51449089026&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.32363

DO - 10.1002/ajmg.a.32363

M3 - Article

C2 - 18671280

AN - SCOPUS:51449089026

VL - 146

SP - 2227

EP - 2233

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 17

ER -