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

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	637-639
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	47
Issue number	5
State	Published - 1993
Externally published	Yes

Keywords

balanced translocation
chromosome 2
chromosome 7
craniosynostosis
gene mapping

ASJC Scopus subject areas

Genetics(clinical)

Cite this

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title = "Saethre-Chotzen syndrome with familial translocation at chromosome 7p22",

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.",

keywords = "balanced translocation, chromosome 2, chromosome 7, craniosynostosis, gene mapping",

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.}",

year = "1993",

language = "English (US)",

volume = "47",

pages = "637--639",

journal = "American Journal of Medical Genetics",

issn = "0148-7299",

publisher = "Wiley-Liss Inc.",

number = "5",

}

TY - JOUR

T1 - Saethre-Chotzen syndrome with familial translocation at chromosome 7p22

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.

KW - balanced translocation

KW - chromosome 2

KW - chromosome 7

KW - craniosynostosis

KW - gene mapping

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M3 - Article

C2 - 8266989

AN - SCOPUS:0027487135

SN - 0148-7299

VL - 47

SP - 637

EP - 639

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 5

ER -

Saethre-Chotzen syndrome with familial translocation at chromosome 7p22

Abstract

Keywords

ASJC Scopus subject areas

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