A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review

Autores
Siewert, Susana Elfrida; Della Vedova, Maria Cecilia; Guillamondegui, M. J.; Drut, M.; Brezigar A.; Cardetti, M.; Marsá, S.M.
Año de publicación
2018
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
We report on a familial translocation t(3;7)(3q29::7q22) leading to pure trisomy 7q22 --> 7qter in a 21-days-old boy: 46,XY,der(3;7)(3pter--> 3q29::7q22--> 7pter). By conventional citogenetic techniques including fluorescence in situ hybridization (FISH) analysis, the patient was found to have inherited a derivative chromosome 3 from his father: 46,XY,t(3;7)(3pter--> 3q29::7q22--> 7qter;7pter--> 7q22). As a consequence, pure duplications of chromosome 7q have been classified in 4 groups on the basis of the involved region. The present case is included in group 2 which involves large duplications spanning from proximal bands to telomere duplication. In the literature, only one case with a pure duplication of the same region has been described. Despite this, the phenotype is different. Moreover, our patient shares some phenotypic features, such as wide fontanelle, retrognathia, epicathal fold, hypertelorism, pulmonary hypoventilation and early postnatal death. However, the absence of physical characterization in most of the reported cases could justify the lacking phenotype-genotype correlation in patients with partial 7q duplication. Further studies using recent molecular approaches such as array-CGH might permit a more clinically useful grouping of 7q duplications.
Fil: Siewert, Susana Elfrida. Universidad Nacional de San Luis. Facultad de Química, Bioquímica y Farmacia. Departamento de Bioquímica y Ciencias Biológicas; Argentina
Fil: Della Vedova, Maria Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - San Luis. Instituto de Química de San Luis. Universidad Nacional de San Luis. Facultad de Química, Bioquímica y Farmacia. Instituto de Química de San Luis; Argentina
Fil: Guillamondegui, M. J.. Provincia de Mendoza. Hospital Pediátrico Dr. Humberto J. Notti; Argentina
Fil: Drut, M.. Laboratorio Privado; Argentina
Fil: Brezigar A.. Provincia de San Luis. Clinic Cerhu; Argentina
Fil: Cardetti, M.. Provincia de San Luis. Clinic Cerhu; Argentina
Fil: Marsá, S.M.. Laboratorio Genes; Argentina
Materia
TRANSLOCATION
CHROMOSOME 7
PURE TRISOMY
FISH
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/87362
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/87362
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini reviewSiewert, Susana ElfridaDella Vedova, Maria CeciliaGuillamondegui, M. J.Drut, M.Brezigar A.Cardetti, M.Marsá, S.M.TRANSLOCATIONCHROMOSOME 7PURE TRISOMYFISHhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3We report on a familial translocation t(3;7)(3q29::7q22) leading to pure trisomy 7q22 --> 7qter in a 21-days-old boy: 46,XY,der(3;7)(3pter--> 3q29::7q22--> 7pter). By conventional citogenetic techniques including fluorescence in situ hybridization (FISH) analysis, the patient was found to have inherited a derivative chromosome 3 from his father: 46,XY,t(3;7)(3pter--> 3q29::7q22--> 7qter;7pter--> 7q22). As a consequence, pure duplications of chromosome 7q have been classified in 4 groups on the basis of the involved region. The present case is included in group 2 which involves large duplications spanning from proximal bands to telomere duplication. In the literature, only one case with a pure duplication of the same region has been described. Despite this, the phenotype is different. Moreover, our patient shares some phenotypic features, such as wide fontanelle, retrognathia, epicathal fold, hypertelorism, pulmonary hypoventilation and early postnatal death. However, the absence of physical characterization in most of the reported cases could justify the lacking phenotype-genotype correlation in patients with partial 7q duplication. Further studies using recent molecular approaches such as array-CGH might permit a more clinically useful grouping of 7q duplications.Fil: Siewert, Susana Elfrida. Universidad Nacional de San Luis. Facultad de Química, Bioquímica y Farmacia. Departamento de Bioquímica y Ciencias Biológicas; ArgentinaFil: Della Vedova, Maria Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - San Luis. Instituto de Química de San Luis. Universidad Nacional de San Luis. Facultad de Química, Bioquímica y Farmacia. Instituto de Química de San Luis; ArgentinaFil: Guillamondegui, M. J.. Provincia de Mendoza. Hospital Pediátrico Dr. Humberto J. Notti; ArgentinaFil: Drut, M.. Laboratorio Privado; ArgentinaFil: Brezigar A.. Provincia de San Luis. Clinic Cerhu; ArgentinaFil: Cardetti, M.. Provincia de San Luis. Clinic Cerhu; ArgentinaFil: Marsá, S.M.. Laboratorio Genes; ArgentinaSomil Shah2018-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/87362Siewert, Susana Elfrida; Della Vedova, Maria Cecilia; Guillamondegui, M. J.; Drut, M.; Brezigar A.; et al.; A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review; Somil Shah; Indian Journal of Medical Research and Pharmaceutical Sciences; 5; 4; 4-2018; 82-912349-5340CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://www.ijmrps.com/Issues%20PDF/Vol.5/April-2018/10.pdfinfo:eu-repo/semantics/altIdentifier/doi/10.5281/zenodo.1236948info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:42:36Zoai:ri.conicet.gov.ar:11336/87362instacron: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 09:42:37.204CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review
title A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review
spellingShingle A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review
Siewert, Susana Elfrida
TRANSLOCATION
CHROMOSOME 7
PURE TRISOMY
FISH
title_short A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review
title_full A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review
title_fullStr A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review
title_full_unstemmed A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review
title_sort A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review
dc.creator.none.fl_str_mv Siewert, Susana Elfrida
Della Vedova, Maria Cecilia
Guillamondegui, M. J.
Drut, M.
Brezigar A.
Cardetti, M.
Marsá, S.M.
author Siewert, Susana Elfrida
author_facet Siewert, Susana Elfrida
Della Vedova, Maria Cecilia
Guillamondegui, M. J.
Drut, M.
Brezigar A.
Cardetti, M.
Marsá, S.M.
author_role author
author2 Della Vedova, Maria Cecilia
Guillamondegui, M. J.
Drut, M.
Brezigar A.
Cardetti, M.
Marsá, S.M.
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv TRANSLOCATION
CHROMOSOME 7
PURE TRISOMY
FISH
topic TRANSLOCATION
CHROMOSOME 7
PURE TRISOMY
FISH
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv We report on a familial translocation t(3;7)(3q29::7q22) leading to pure trisomy 7q22 --> 7qter in a 21-days-old boy: 46,XY,der(3;7)(3pter--> 3q29::7q22--> 7pter). By conventional citogenetic techniques including fluorescence in situ hybridization (FISH) analysis, the patient was found to have inherited a derivative chromosome 3 from his father: 46,XY,t(3;7)(3pter--> 3q29::7q22--> 7qter;7pter--> 7q22). As a consequence, pure duplications of chromosome 7q have been classified in 4 groups on the basis of the involved region. The present case is included in group 2 which involves large duplications spanning from proximal bands to telomere duplication. In the literature, only one case with a pure duplication of the same region has been described. Despite this, the phenotype is different. Moreover, our patient shares some phenotypic features, such as wide fontanelle, retrognathia, epicathal fold, hypertelorism, pulmonary hypoventilation and early postnatal death. However, the absence of physical characterization in most of the reported cases could justify the lacking phenotype-genotype correlation in patients with partial 7q duplication. Further studies using recent molecular approaches such as array-CGH might permit a more clinically useful grouping of 7q duplications.
Fil: Siewert, Susana Elfrida. Universidad Nacional de San Luis. Facultad de Química, Bioquímica y Farmacia. Departamento de Bioquímica y Ciencias Biológicas; Argentina
Fil: Della Vedova, Maria Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - San Luis. Instituto de Química de San Luis. Universidad Nacional de San Luis. Facultad de Química, Bioquímica y Farmacia. Instituto de Química de San Luis; Argentina
Fil: Guillamondegui, M. J.. Provincia de Mendoza. Hospital Pediátrico Dr. Humberto J. Notti; Argentina
Fil: Drut, M.. Laboratorio Privado; Argentina
Fil: Brezigar A.. Provincia de San Luis. Clinic Cerhu; Argentina
Fil: Cardetti, M.. Provincia de San Luis. Clinic Cerhu; Argentina
Fil: Marsá, S.M.. Laboratorio Genes; Argentina
description We report on a familial translocation t(3;7)(3q29::7q22) leading to pure trisomy 7q22 --> 7qter in a 21-days-old boy: 46,XY,der(3;7)(3pter--> 3q29::7q22--> 7pter). By conventional citogenetic techniques including fluorescence in situ hybridization (FISH) analysis, the patient was found to have inherited a derivative chromosome 3 from his father: 46,XY,t(3;7)(3pter--> 3q29::7q22--> 7qter;7pter--> 7q22). As a consequence, pure duplications of chromosome 7q have been classified in 4 groups on the basis of the involved region. The present case is included in group 2 which involves large duplications spanning from proximal bands to telomere duplication. In the literature, only one case with a pure duplication of the same region has been described. Despite this, the phenotype is different. Moreover, our patient shares some phenotypic features, such as wide fontanelle, retrognathia, epicathal fold, hypertelorism, pulmonary hypoventilation and early postnatal death. However, the absence of physical characterization in most of the reported cases could justify the lacking phenotype-genotype correlation in patients with partial 7q duplication. Further studies using recent molecular approaches such as array-CGH might permit a more clinically useful grouping of 7q duplications.
publishDate 2018
dc.date.none.fl_str_mv 2018-04
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/11336/87362
Siewert, Susana Elfrida; Della Vedova, Maria Cecilia; Guillamondegui, M. J.; Drut, M.; Brezigar A.; et al.; A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review; Somil Shah; Indian Journal of Medical Research and Pharmaceutical Sciences; 5; 4; 4-2018; 82-91
2349-5340
CONICET Digital
CONICET
url http://hdl.handle.net/11336/87362
identifier_str_mv Siewert, Susana Elfrida; Della Vedova, Maria Cecilia; Guillamondegui, M. J.; Drut, M.; Brezigar A.; et al.; A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review; Somil Shah; Indian Journal of Medical Research and Pharmaceutical Sciences; 5; 4; 4-2018; 82-91
2349-5340
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.ijmrps.com/Issues%20PDF/Vol.5/April-2018/10.pdf
info:eu-repo/semantics/altIdentifier/doi/10.5281/zenodo.1236948
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Somil Shah
publisher.none.fl_str_mv Somil Shah
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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