Inv dup 15 syndrome: Case report with epilepsy onset in the first year

Domenica Immacolata Battaglia; Fiorella Gurrieri; Marika Pane; V. Donvito; L. Cesarini; Celeste Acquafondata; Donatella Lettori; Chiara Veredice; L. Russo; G. Neri; F. Guzzetta

Inv dup 15 syndrome: Case report with epilepsy onset in the first year

Domenica Immacolata Battaglia, Fiorella Gurrieri, Marika Pane, V. Donvito, L. Cesarini, Celeste Acquafondata, Donatella Lettori, Chiara Veredice, L. Russo, G. Neri, F. Guzzetta

Risultato della ricerca: Contributo in rivista › Articolo in rivista

Abstract

Inverted duplicated chromosome 15 (inv dup 15) syndrome is a genetic disorder characterized by facial dysmorphisms, psychomotor retardation, pervasive developmental disorder and neurological signs such as hypotonia and epilepsy. We describe a case of infantile spasms and myoclonia associated with invdup 15. In the literature only four cases of inv dup15 with early onset spasms was described. We suggest that a karyotype must be obtained in patients with unexplained infantile spasms, specially if associated to hypotonia and minor dysmorphic signs.

Titolo tradotto del contributo	[Autom. eng. transl.] Inv dup 15 syndrome: Case report with epilepsy onset in the first year
Lingua originale	Italian
pagine (da-a)	65-67
Numero di pagine	3
Rivista	BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA
Volume	2002
Stato di pubblicazione	Pubblicato - 2002

Keywords

Infantile Spasms
Pervasive Developmental Disorder
Inv Dup 15 Syndrome

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title = "Inv dup 15 syndrome: Case report with epilepsy onset in the first year",

abstract = "Inverted duplicated chromosome 15 (inv dup 15) syndrome is a genetic disorder characterized by facial dysmorphisms, psychomotor retardation, pervasive developmental disorder and neurological signs such as hypotonia and epilepsy. We describe a case of infantile spasms and myoclonia associated with invdup 15. In the literature only four cases of inv dup15 with early onset spasms was described. We suggest that a karyotype must be obtained in patients with unexplained infantile spasms, specially if associated to hypotonia and minor dysmorphic signs.",

keywords = "Infantile Spasms, Pervasive Developmental Disorder, Inv Dup 15 Syndrome, Infantile Spasms, Pervasive Developmental Disorder, Inv Dup 15 Syndrome",

author = "Battaglia, {Domenica Immacolata} and Fiorella Gurrieri and Marika Pane and V. Donvito and L. Cesarini and Celeste Acquafondata and Donatella Lettori and Chiara Veredice and L. Russo and G. Neri and F. Guzzetta",

year = "2002",

language = "Italian",

volume = "2002",

pages = "65--67",

journal = "BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA",

issn = "0394-560X",

publisher = "Lega Italiana contro l'Epilessia",

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TY - JOUR

T1 - Inv dup 15 syndrome: Case report with epilepsy onset in the first year

AU - Battaglia, Domenica Immacolata

AU - Gurrieri, Fiorella

AU - Pane, Marika

AU - Donvito, V.

AU - Cesarini, L.

AU - Acquafondata, Celeste

AU - Lettori, Donatella

AU - Veredice, Chiara

AU - Russo, L.

AU - Neri, G.

AU - Guzzetta, F.

PY - 2002

Y1 - 2002

N2 - Inverted duplicated chromosome 15 (inv dup 15) syndrome is a genetic disorder characterized by facial dysmorphisms, psychomotor retardation, pervasive developmental disorder and neurological signs such as hypotonia and epilepsy. We describe a case of infantile spasms and myoclonia associated with invdup 15. In the literature only four cases of inv dup15 with early onset spasms was described. We suggest that a karyotype must be obtained in patients with unexplained infantile spasms, specially if associated to hypotonia and minor dysmorphic signs.

AB - Inverted duplicated chromosome 15 (inv dup 15) syndrome is a genetic disorder characterized by facial dysmorphisms, psychomotor retardation, pervasive developmental disorder and neurological signs such as hypotonia and epilepsy. We describe a case of infantile spasms and myoclonia associated with invdup 15. In the literature only four cases of inv dup15 with early onset spasms was described. We suggest that a karyotype must be obtained in patients with unexplained infantile spasms, specially if associated to hypotonia and minor dysmorphic signs.

KW - Infantile Spasms

KW - Pervasive Developmental Disorder

KW - Inv Dup 15 Syndrome

KW - Infantile Spasms

KW - Pervasive Developmental Disorder

KW - Inv Dup 15 Syndrome

UR - http://hdl.handle.net/10807/260329

M3 - Articolo in rivista

SN - 0394-560X

VL - 2002

SP - 65

EP - 67

JO - BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA

JF - BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA

ER -

Inv dup 15 syndrome: Case report with epilepsy onset in the first year

Abstract

Keywords

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