The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy

A Battaglia; Fiorella Gurrieri; E Bertini; A Bellacosa; Mg Pomponi; M Paravatou Petsotas; Salvatore Mazza; Giovanni Neri

The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy

A Battaglia, Fiorella Gurrieri, E Bertini, A Bellacosa, Mg Pomponi, M Paravatou Petsotas, Salvatore Mazza, Giovanni Neri

Università Cattolica del Sacro Cuore

Risultato della ricerca: Contributo in rivista › Articolo in rivista

91 Citazioni (Scopus)

Abstract

The most common of the heterogeneous group of the extra structurally abnormal chromosomes (ESACs) is the inv dup(15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. Inv dup(15), containing the Prader-Willi/Angelman syndrome (PWS/AS) region, are constantly associated with phenotypic abnormalities and mental retardation. We report on four additional patients with inv dup(15), whose behavioral pattern, and neurologic and physical findings further delineate the phenotype of this neurogenetic syndrome. We also provide FISH analyses on chromosomes of the observed ESACs and discuss the role of a number of genes located within the tetrasomic region.

Lingua originale	English
pagine (da-a)	1081-1086
Numero di pagine	6
Rivista	Neurology
Volume	48
Stato di pubblicazione	Pubblicato - 1997

Keywords

Adolescent
Adult
Aneuploidy
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 15
Electroencephalography
Epilepsy
Female
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability
Male
Mental Disorders
Syndrome

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title = "The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy",

abstract = "The most common of the heterogeneous group of the extra structurally abnormal chromosomes (ESACs) is the inv dup(15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. Inv dup(15), containing the Prader-Willi/Angelman syndrome (PWS/AS) region, are constantly associated with phenotypic abnormalities and mental retardation. We report on four additional patients with inv dup(15), whose behavioral pattern, and neurologic and physical findings further delineate the phenotype of this neurogenetic syndrome. We also provide FISH analyses on chromosomes of the observed ESACs and discuss the role of a number of genes located within the tetrasomic region.",

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author = "A Battaglia and Fiorella Gurrieri and E Bertini and A Bellacosa and Mg Pomponi and {Paravatou Petsotas}, M and Salvatore Mazza and Giovanni Neri",

year = "1997",

language = "English",

volume = "48",

pages = "1081--1086",

journal = "Neurology",

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TY - JOUR

T1 - The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy

AU - Battaglia, A

AU - Gurrieri, Fiorella

AU - Bertini, E

AU - Bellacosa, A

AU - Pomponi, Mg

AU - Paravatou Petsotas, M

AU - Mazza, Salvatore

AU - Neri, Giovanni

PY - 1997

Y1 - 1997

N2 - The most common of the heterogeneous group of the extra structurally abnormal chromosomes (ESACs) is the inv dup(15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. Inv dup(15), containing the Prader-Willi/Angelman syndrome (PWS/AS) region, are constantly associated with phenotypic abnormalities and mental retardation. We report on four additional patients with inv dup(15), whose behavioral pattern, and neurologic and physical findings further delineate the phenotype of this neurogenetic syndrome. We also provide FISH analyses on chromosomes of the observed ESACs and discuss the role of a number of genes located within the tetrasomic region.

AB - The most common of the heterogeneous group of the extra structurally abnormal chromosomes (ESACs) is the inv dup(15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. Inv dup(15), containing the Prader-Willi/Angelman syndrome (PWS/AS) region, are constantly associated with phenotypic abnormalities and mental retardation. We report on four additional patients with inv dup(15), whose behavioral pattern, and neurologic and physical findings further delineate the phenotype of this neurogenetic syndrome. We also provide FISH analyses on chromosomes of the observed ESACs and discuss the role of a number of genes located within the tetrasomic region.

KW - Adolescent

KW - Adult

KW - Aneuploidy

KW - Chromosome Aberrations

KW - Chromosome Disorders

KW - Chromosomes, Human, Pair 15

KW - Electroencephalography

KW - Epilepsy

KW - Female

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Intellectual Disability

KW - Male

KW - Mental Disorders

KW - Syndrome

KW - Adolescent

KW - Adult

KW - Aneuploidy

KW - Chromosome Aberrations

KW - Chromosome Disorders

KW - Chromosomes, Human, Pair 15

KW - Electroencephalography

KW - Epilepsy

KW - Female

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Intellectual Disability

KW - Male

KW - Mental Disorders

KW - Syndrome

UR - http://hdl.handle.net/10807/15722

M3 - Article

SN - 0028-3878

VL - 48

SP - 1081

EP - 1086

JO - Neurology

JF - Neurology

ER -

The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy

Abstract

Keywords

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