A family with a grand-maternally derived interstitial duplication of proximal 15q

F. Z. Boyar; M. M. Whitney; A. C. Lossie; B. A. Gray; K. L. Keller; H. J. Stalker; R. T. Zori; G. Geffken; J. Mutch; P. J. Edge; K. S. Voeller; C. A. Williams; D. J. Driscoll

doi:10.1034/j.1399-0004.2001.600604.x

A family with a grand-maternally derived interstitial duplication of proximal 15q

F. Z. Boyar, M. M. Whitney, A. C. Lossie, B. A. Gray, K. L. Keller, H. J. Stalker, R. T. Zori, G. Geffken, J. Mutch, P. J. Edge, K. S. Voeller, C. A. Williams, D. J. Driscoll

Research output: Contribution to journal › Article › peer-review

53 Scopus citations

Abstract

About 1% of individuals with autism or types of pervasive developmental disorder have a duplication of the 15q11-q13 region. These abnormalities can be detected by routine G-banded chromosome study, showing an extra marker chromosome, or demonstrated by fluorescence in situ hybridization (FISH) analysis, revealing an interstitial duplication. We report here the molecular, cytogenetic, clinical and neuropsychiatric evaluations of a family in whom 3 of 4 siblings inherited an interstitial duplication of 15q11-q13. This duplication was inherited from their mother who also had a maternally derived duplication. Affected family members had apraxia of speech, phonological awareness deficits, developmental language disorder, dyslexia, as well as limb apraxia but did not have any dysmorphic clinical features. The observations in this family suggest that the phenotypic manifestations of proximal 15q duplications may also involve language-based learning disabilities.

Original language	English (US)
Pages (from-to)	421-430
Number of pages	10
Journal	Clinical Genetics
Volume	60
Issue number	6
DOIs	https://doi.org/10.1034/j.1399-0004.2001.600604.x
State	Published - 2001
Externally published	Yes

Keywords

Angelman
Apraxia of speech
Autism
Chromosome 15
Dyslexia
Imprinting
Interstitial duplication
Phonological awareness deficit

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1034/j.1399-0004.2001.600604.x

Cite this

@article{725331b975124c66b1985bea41b0f6be,

title = "A family with a grand-maternally derived interstitial duplication of proximal 15q",

abstract = "About 1% of individuals with autism or types of pervasive developmental disorder have a duplication of the 15q11-q13 region. These abnormalities can be detected by routine G-banded chromosome study, showing an extra marker chromosome, or demonstrated by fluorescence in situ hybridization (FISH) analysis, revealing an interstitial duplication. We report here the molecular, cytogenetic, clinical and neuropsychiatric evaluations of a family in whom 3 of 4 siblings inherited an interstitial duplication of 15q11-q13. This duplication was inherited from their mother who also had a maternally derived duplication. Affected family members had apraxia of speech, phonological awareness deficits, developmental language disorder, dyslexia, as well as limb apraxia but did not have any dysmorphic clinical features. The observations in this family suggest that the phenotypic manifestations of proximal 15q duplications may also involve language-based learning disabilities.",

keywords = "Angelman, Apraxia of speech, Autism, Chromosome 15, Dyslexia, Imprinting, Interstitial duplication, Phonological awareness deficit",

author = "Boyar, {F. Z.} and Whitney, {M. M.} and Lossie, {A. C.} and Gray, {B. A.} and Keller, {K. L.} and Stalker, {H. J.} and Zori, {R. T.} and G. Geffken and J. Mutch and Edge, {P. J.} and Voeller, {K. S.} and Williams, {C. A.} and Driscoll, {D. J.}",

year = "2001",

doi = "10.1034/j.1399-0004.2001.600604.x",

language = "English (US)",

volume = "60",

pages = "421--430",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell",

number = "6",

}

TY - JOUR

T1 - A family with a grand-maternally derived interstitial duplication of proximal 15q

AU - Boyar, F. Z.

AU - Whitney, M. M.

AU - Lossie, A. C.

AU - Gray, B. A.

AU - Keller, K. L.

AU - Stalker, H. J.

AU - Zori, R. T.

AU - Geffken, G.

AU - Mutch, J.

AU - Edge, P. J.

AU - Voeller, K. S.

AU - Williams, C. A.

AU - Driscoll, D. J.

PY - 2001

Y1 - 2001

N2 - About 1% of individuals with autism or types of pervasive developmental disorder have a duplication of the 15q11-q13 region. These abnormalities can be detected by routine G-banded chromosome study, showing an extra marker chromosome, or demonstrated by fluorescence in situ hybridization (FISH) analysis, revealing an interstitial duplication. We report here the molecular, cytogenetic, clinical and neuropsychiatric evaluations of a family in whom 3 of 4 siblings inherited an interstitial duplication of 15q11-q13. This duplication was inherited from their mother who also had a maternally derived duplication. Affected family members had apraxia of speech, phonological awareness deficits, developmental language disorder, dyslexia, as well as limb apraxia but did not have any dysmorphic clinical features. The observations in this family suggest that the phenotypic manifestations of proximal 15q duplications may also involve language-based learning disabilities.

AB - About 1% of individuals with autism or types of pervasive developmental disorder have a duplication of the 15q11-q13 region. These abnormalities can be detected by routine G-banded chromosome study, showing an extra marker chromosome, or demonstrated by fluorescence in situ hybridization (FISH) analysis, revealing an interstitial duplication. We report here the molecular, cytogenetic, clinical and neuropsychiatric evaluations of a family in whom 3 of 4 siblings inherited an interstitial duplication of 15q11-q13. This duplication was inherited from their mother who also had a maternally derived duplication. Affected family members had apraxia of speech, phonological awareness deficits, developmental language disorder, dyslexia, as well as limb apraxia but did not have any dysmorphic clinical features. The observations in this family suggest that the phenotypic manifestations of proximal 15q duplications may also involve language-based learning disabilities.

KW - Angelman

KW - Apraxia of speech

KW - Autism

KW - Chromosome 15

KW - Dyslexia

KW - Imprinting

KW - Interstitial duplication

KW - Phonological awareness deficit

UR - http://www.scopus.com/inward/record.url?scp=18244403202&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=18244403202&partnerID=8YFLogxK

U2 - 10.1034/j.1399-0004.2001.600604.x

DO - 10.1034/j.1399-0004.2001.600604.x

M3 - Article

C2 - 11846734

AN - SCOPUS:18244403202

SN - 0009-9163

VL - 60

SP - 421

EP - 430

JO - Clinical Genetics

JF - Clinical Genetics

IS - 6

ER -

A family with a grand-maternally derived interstitial duplication of proximal 15q

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this