Saethre-Chotzen syndrome with familial translocation at chromosome 7p22

C. S. Reid; L. E. McMorrow; D. M. McDonald-McGinn; K. J. Grace; F. J. Ramos; E. H. Zackai; M. M. Cohen; E. W. Jabs

doi:10.1002/ajmg.1320470511

Saethre-Chotzen syndrome with familial translocation at chromosome 7p22

C. S. Reid, L. E. McMorrow, D. M. McDonald-McGinn, K. J. Grace, F. J. Ramos, E. H. Zackai, M. M. Cohen, E. W. Jabs

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47 Citas (Scopus)

Resumen

Chromosome analysis of a male infant and his mother with Saethre-Chotzen syndrome demonstrated an apparently balanced translocation, t(2;7)(p23;p22). This association lends support to localization of the gene for Saethre- Chotzen syndrome to the 7p2 region and supports further involvement of gene(s) in the 7p22 region.

Idioma original	English
Páginas (desde-hasta)	637-639
Número de páginas	3
Publicación	American Journal of Medical Genetics
Volumen	47
N.º	5
DOI	https://doi.org/10.1002/ajmg.1320470511
Estado	Published - 1993
Publicado de forma externa	Sí

ASJC Scopus Subject Areas

Genetics(clinical)

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10.1002/ajmg.1320470511

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abstract = "Chromosome analysis of a male infant and his mother with Saethre-Chotzen syndrome demonstrated an apparently balanced translocation, t(2;7)(p23;p22). This association lends support to localization of the gene for Saethre- Chotzen syndrome to the 7p2 region and supports further involvement of gene(s) in the 7p22 region.",

author = "Reid, {C. S.} and McMorrow, {L. E.} and McDonald-McGinn, {D. M.} and Grace, {K. J.} and Ramos, {F. J.} and Zackai, {E. H.} and Cohen, {M. M.} and Jabs, {E. W.}",

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AU - Reid, C. S.

AU - McMorrow, L. E.

AU - McDonald-McGinn, D. M.

AU - Grace, K. J.

AU - Ramos, F. J.

AU - Zackai, E. H.

AU - Cohen, M. M.

AU - Jabs, E. W.

PY - 1993

Y1 - 1993

N2 - Chromosome analysis of a male infant and his mother with Saethre-Chotzen syndrome demonstrated an apparently balanced translocation, t(2;7)(p23;p22). This association lends support to localization of the gene for Saethre- Chotzen syndrome to the 7p2 region and supports further involvement of gene(s) in the 7p22 region.

AB - Chromosome analysis of a male infant and his mother with Saethre-Chotzen syndrome demonstrated an apparently balanced translocation, t(2;7)(p23;p22). This association lends support to localization of the gene for Saethre- Chotzen syndrome to the 7p2 region and supports further involvement of gene(s) in the 7p22 region.

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JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

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ER -

Saethre-Chotzen syndrome with familial translocation at chromosome 7p22

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