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Title: Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1

Abstract

Koiffman et al recently reported on a boy with split hand/split foot (SHSF), situs viscerum inversus, polysplenia, and other abnormalities, who also had an apparently balanced 7;8 rearrangement with breakpoint on 7q22. This case presents many similarities with a member of a family cosegregating SHSF and a 2;7 balanced reciprocal translocation involving band 7q22.1 recently identified. This subject, who could not be studied cytogenetically, had SHSF and a laterality sequence comprised in the spectrum of the polyasplenia developmental field defect or the Ivemark syndrome. The authors made the hypothesis that both SHSF and the laterality defects in this patient could be ascribed to the disruption of a single pleiotropic gene or involvement of contiguous genes located on 7q22.1. The observation of Koiffmann et al. lends support to this hypothesis and renders 7q22.1 an extremely important region for the study of pattern formation and blastogenesis. It is also intriguing that mutations responsible for X-linked SHSF, ventral midline defects, and visceral heterotaxy have been mapped within the same region of the X chromosome, that is, X-24-q27.1. Altogether these observations suggest that homologous clusters of contiguous genes or homologous single pleiotropic genes may be located on 7q22.1 and Xq24-q27.1.

Authors:
; ;  [1]
  1. Universita Cattolica del Sacro Cuore, Rome (Italy)
Publication Date:
OSTI Identifier:
86552
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 50; Journal Issue: 1; Other Information: PBD: 1 Mar 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; CONGENITAL MALFORMATIONS; GENETICS; HUMAN CHROMOSOME 7; GENETIC MAPPING; HUMAN X CHROMOSOME

Citation Formats

Genuardi, M., Gurrieri, F., and Neri, G. Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. United States: N. p., 1994. Web. doi:10.1002/ajmg.1320500125.
Genuardi, M., Gurrieri, F., & Neri, G. Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. United States. doi:10.1002/ajmg.1320500125.
Genuardi, M., Gurrieri, F., and Neri, G. Tue . "Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1". United States. doi:10.1002/ajmg.1320500125.
@article{osti_86552,
title = {Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1},
author = {Genuardi, M. and Gurrieri, F. and Neri, G.},
abstractNote = {Koiffman et al recently reported on a boy with split hand/split foot (SHSF), situs viscerum inversus, polysplenia, and other abnormalities, who also had an apparently balanced 7;8 rearrangement with breakpoint on 7q22. This case presents many similarities with a member of a family cosegregating SHSF and a 2;7 balanced reciprocal translocation involving band 7q22.1 recently identified. This subject, who could not be studied cytogenetically, had SHSF and a laterality sequence comprised in the spectrum of the polyasplenia developmental field defect or the Ivemark syndrome. The authors made the hypothesis that both SHSF and the laterality defects in this patient could be ascribed to the disruption of a single pleiotropic gene or involvement of contiguous genes located on 7q22.1. The observation of Koiffmann et al. lends support to this hypothesis and renders 7q22.1 an extremely important region for the study of pattern formation and blastogenesis. It is also intriguing that mutations responsible for X-linked SHSF, ventral midline defects, and visceral heterotaxy have been mapped within the same region of the X chromosome, that is, X-24-q27.1. Altogether these observations suggest that homologous clusters of contiguous genes or homologous single pleiotropic genes may be located on 7q22.1 and Xq24-q27.1.},
doi = {10.1002/ajmg.1320500125},
journal = {American Journal of Medical Genetics},
number = 1,
volume = 50,
place = {United States},
year = {1994},
month = {3}
}