Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma

Autores
del Rey, Graciela Monica; Venara, Marcela Cristina; Papendieck, P.; Gruñeiro, L.; Tangari, A.; Boywitt, A.; Casali, B.; Laudicina, A.
Año de publicación
2015
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Deletion of the short arm of chromosome 9 is associated with two distinct clinical prototypes. Small telomeric distal 9p deletions have been reported in patients 46,XY with gonadal dysgenesis, this region contains genes required in two copies for normal testis development. Recent studies have narrowed the interval 9p24.3-pter containing the putative autosomal testis-determining gene(s) known as domain DMRT. On the other hand, and depending on the extent of deletion of the short arm, the clinical characteristics of monosomy 9p syndrome may emerge. We present an infant female with complete 46,XY gonadal dysgenesis, who was examined for motor developmental retardation. In the karyotype a chromosomal deletion 9p24.1 was identified by cytogenetic and fluorescence in situ hybridization studies. No SRY deletion or mutation was detected. Ultrasonographic studies showed a normal uterus. Basal luteinizing hormone and follicle stimulating hormone values were high. The patient underwent gonadectomy at 3.2 years of age, and histologic analysis disclosed dysgenetic gonads with gonadoblastoma.
Fil: del Rey, Graciela Monica. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Venara, Marcela Cristina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Papendieck, P.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Gruñeiro, L.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Tangari, A.. Fundación Hospitalaria; Argentina
Fil: Boywitt, A.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Casali, B.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Laudicina, A.. Lexel SRL.; Argentina
Materia
DISTAL MONOSOMY 9p CHROMOSOME
9p PARTIAL DELETION
DISORDERS OF SEXUAL DEVELOPMENT (DSD))
GONADAL DYSGENESIS
FLUORESCENCE IN SITU HYBRIDIZATION (FISH)
GONADOBLASTOMA
DMRT GENES
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/8139
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/8139
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastomadel Rey, Graciela MonicaVenara, Marcela CristinaPapendieck, P.Gruñeiro, L.Tangari, A.Boywitt, A.Casali, B.Laudicina, A.DISTAL MONOSOMY 9p CHROMOSOME9p PARTIAL DELETIONDISORDERS OF SEXUAL DEVELOPMENT (DSD))GONADAL DYSGENESISFLUORESCENCE IN SITU HYBRIDIZATION (FISH)GONADOBLASTOMADMRT GENEShttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Deletion of the short arm of chromosome 9 is associated with two distinct clinical prototypes. Small telomeric distal 9p deletions have been reported in patients 46,XY with gonadal dysgenesis, this region contains genes required in two copies for normal testis development. Recent studies have narrowed the interval 9p24.3-pter containing the putative autosomal testis-determining gene(s) known as domain DMRT. On the other hand, and depending on the extent of deletion of the short arm, the clinical characteristics of monosomy 9p syndrome may emerge. We present an infant female with complete 46,XY gonadal dysgenesis, who was examined for motor developmental retardation. In the karyotype a chromosomal deletion 9p24.1 was identified by cytogenetic and fluorescence in situ hybridization studies. No SRY deletion or mutation was detected. Ultrasonographic studies showed a normal uterus. Basal luteinizing hormone and follicle stimulating hormone values were high. The patient underwent gonadectomy at 3.2 years of age, and histologic analysis disclosed dysgenetic gonads with gonadoblastoma.Fil: del Rey, Graciela Monica. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; ArgentinaFil: Venara, Marcela Cristina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; ArgentinaFil: Papendieck, P.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; ArgentinaFil: Gruñeiro, L.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; ArgentinaFil: Tangari, A.. Fundación Hospitalaria; ArgentinaFil: Boywitt, A.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; ArgentinaFil: Casali, B.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; ArgentinaFil: Laudicina, A.. Lexel SRL.; ArgentinaBiological Systems2015-02info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/8139del Rey, Graciela Monica; Venara, Marcela Cristina; Papendieck, P.; Gruñeiro, L.; Tangari, A.; et al.; Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma; Biological Systems; Biological Systems; 4; 1; 2-2015; 1292329-6577enginfo:eu-repo/semantics/altIdentifier/url/http://www.omicsgroup.org/journals/association-of-distal-deletion-of-the-short-arm-of-chromosome-9-with-46xy-disorder-of-sex-development-and-gonadoblastoma-2329-6577-1000129.php?aid=45515info:eu-repo/semantics/altIdentifier/doi/10.4172/2329-6577.1000129info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:37:57Zoai:ri.conicet.gov.ar:11336/8139instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:37:57.827CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma
title Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma
spellingShingle Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma
del Rey, Graciela Monica
DISTAL MONOSOMY 9p CHROMOSOME
9p PARTIAL DELETION
DISORDERS OF SEXUAL DEVELOPMENT (DSD))
GONADAL DYSGENESIS
FLUORESCENCE IN SITU HYBRIDIZATION (FISH)
GONADOBLASTOMA
DMRT GENES
title_short Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma
title_full Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma
title_fullStr Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma
title_full_unstemmed Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma
title_sort Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma
dc.creator.none.fl_str_mv del Rey, Graciela Monica
Venara, Marcela Cristina
Papendieck, P.
Gruñeiro, L.
Tangari, A.
Boywitt, A.
Casali, B.
Laudicina, A.
author del Rey, Graciela Monica
author_facet del Rey, Graciela Monica
Venara, Marcela Cristina
Papendieck, P.
Gruñeiro, L.
Tangari, A.
Boywitt, A.
Casali, B.
Laudicina, A.
author_role author
author2 Venara, Marcela Cristina
Papendieck, P.
Gruñeiro, L.
Tangari, A.
Boywitt, A.
Casali, B.
Laudicina, A.
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv DISTAL MONOSOMY 9p CHROMOSOME
9p PARTIAL DELETION
DISORDERS OF SEXUAL DEVELOPMENT (DSD))
GONADAL DYSGENESIS
FLUORESCENCE IN SITU HYBRIDIZATION (FISH)
GONADOBLASTOMA
DMRT GENES
topic DISTAL MONOSOMY 9p CHROMOSOME
9p PARTIAL DELETION
DISORDERS OF SEXUAL DEVELOPMENT (DSD))
GONADAL DYSGENESIS
FLUORESCENCE IN SITU HYBRIDIZATION (FISH)
GONADOBLASTOMA
DMRT GENES
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Deletion of the short arm of chromosome 9 is associated with two distinct clinical prototypes. Small telomeric distal 9p deletions have been reported in patients 46,XY with gonadal dysgenesis, this region contains genes required in two copies for normal testis development. Recent studies have narrowed the interval 9p24.3-pter containing the putative autosomal testis-determining gene(s) known as domain DMRT. On the other hand, and depending on the extent of deletion of the short arm, the clinical characteristics of monosomy 9p syndrome may emerge. We present an infant female with complete 46,XY gonadal dysgenesis, who was examined for motor developmental retardation. In the karyotype a chromosomal deletion 9p24.1 was identified by cytogenetic and fluorescence in situ hybridization studies. No SRY deletion or mutation was detected. Ultrasonographic studies showed a normal uterus. Basal luteinizing hormone and follicle stimulating hormone values were high. The patient underwent gonadectomy at 3.2 years of age, and histologic analysis disclosed dysgenetic gonads with gonadoblastoma.
Fil: del Rey, Graciela Monica. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Venara, Marcela Cristina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Papendieck, P.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Gruñeiro, L.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Tangari, A.. Fundación Hospitalaria; Argentina
Fil: Boywitt, A.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Casali, B.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Laudicina, A.. Lexel SRL.; Argentina
description Deletion of the short arm of chromosome 9 is associated with two distinct clinical prototypes. Small telomeric distal 9p deletions have been reported in patients 46,XY with gonadal dysgenesis, this region contains genes required in two copies for normal testis development. Recent studies have narrowed the interval 9p24.3-pter containing the putative autosomal testis-determining gene(s) known as domain DMRT. On the other hand, and depending on the extent of deletion of the short arm, the clinical characteristics of monosomy 9p syndrome may emerge. We present an infant female with complete 46,XY gonadal dysgenesis, who was examined for motor developmental retardation. In the karyotype a chromosomal deletion 9p24.1 was identified by cytogenetic and fluorescence in situ hybridization studies. No SRY deletion or mutation was detected. Ultrasonographic studies showed a normal uterus. Basal luteinizing hormone and follicle stimulating hormone values were high. The patient underwent gonadectomy at 3.2 years of age, and histologic analysis disclosed dysgenetic gonads with gonadoblastoma.
publishDate 2015
dc.date.none.fl_str_mv 2015-02
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/8139
del Rey, Graciela Monica; Venara, Marcela Cristina; Papendieck, P.; Gruñeiro, L.; Tangari, A.; et al.; Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma; Biological Systems; Biological Systems; 4; 1; 2-2015; 129
2329-6577
url http://hdl.handle.net/11336/8139
identifier_str_mv del Rey, Graciela Monica; Venara, Marcela Cristina; Papendieck, P.; Gruñeiro, L.; Tangari, A.; et al.; Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma; Biological Systems; Biological Systems; 4; 1; 2-2015; 129
2329-6577
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.omicsgroup.org/journals/association-of-distal-deletion-of-the-short-arm-of-chromosome-9-with-46xy-disorder-of-sex-development-and-gonadoblastoma-2329-6577-1000129.php?aid=45515
info:eu-repo/semantics/altIdentifier/doi/10.4172/2329-6577.1000129
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Biological Systems
publisher.none.fl_str_mv Biological Systems
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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