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Title: Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

Abstract

Mendelian inherited disorders to deletions of adjacent genes on a chromosome have been described as contiguous gene syndromes. Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combination in 27 patients with interstitial and terminal deletions involving the distal short are of the X chromosome. The use of cDNA and genomic probes from the Xp22-pter region allowed us to identify 12 different deletion intervals and to confirm, and further refine, the chromosomal assignment of X-linked recessive chondrodysplasia punctata and Kallmann syndrome genes. A putative pseudoautosomal gene affecting height and an X-linked nonspecific mental retardation gene have been tentatively assigned to specific intervals. The deletion panel described is a useful tool for mapping new sequences and orienting chromosome walks in the region.

Authors:
;  [1]; ; ; ; ; ;  [2];  [3]; ;  [4];  [5];  [6];  [7]
  1. Univ. of Reggio Calabria, Catanzaro (Italy)
  2. Univ. of Pavia (Italy)
  3. Univ. of Naples (Italy)
  4. Univ. of Texas, San Antonio (USA)
  5. Univ. of Nijmegen (Netherlands)
  6. Univ. of Cambridge (England)
  7. G. Gaslini Institute, Genoa (Italy)
Publication Date:
OSTI Identifier:
7137825
Resource Type:
Journal Article
Journal Name:
Proceedings of the National Academy of Sciences of the United States of America; (USA)
Additional Journal Information:
Journal Volume: 86:24; Journal ID: ISSN 0027-8424
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; HEREDITARY DISEASES; MOLECULAR BIOLOGY; X CHROMOSOME; CHROMOSOMAL ABERRATIONS; ENZYME ACTIVITY; GENETIC MAPPING; MENTAL DISORDERS; PATIENTS; RECOMBINANT DNA; CHROMOSOMES; DISEASES; DNA; HETEROCHROMOSOMES; MAPPING; MUTATIONS; NUCLEIC ACIDS; ORGANIC COMPOUNDS; 550400* - Genetics

Citation Formats

Ballabio, A, Andria, G, Bardoni, B, Fraccaro, M, Maraschio, P, Zuffardi, O, Guioli, S, Camerino, G, Carrozzo, R, Bick, D, Campbell, L, Hamel, B, Ferguson-Smith, M A, and Gimelli, G. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. United States: N. p., 1989. Web. doi:10.1073/pnas.86.24.10001.
Ballabio, A, Andria, G, Bardoni, B, Fraccaro, M, Maraschio, P, Zuffardi, O, Guioli, S, Camerino, G, Carrozzo, R, Bick, D, Campbell, L, Hamel, B, Ferguson-Smith, M A, & Gimelli, G. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. United States. https://doi.org/10.1073/pnas.86.24.10001
Ballabio, A, Andria, G, Bardoni, B, Fraccaro, M, Maraschio, P, Zuffardi, O, Guioli, S, Camerino, G, Carrozzo, R, Bick, D, Campbell, L, Hamel, B, Ferguson-Smith, M A, and Gimelli, G. 1989. "Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome". United States. https://doi.org/10.1073/pnas.86.24.10001.
@article{osti_7137825,
title = {Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome},
author = {Ballabio, A and Andria, G and Bardoni, B and Fraccaro, M and Maraschio, P and Zuffardi, O and Guioli, S and Camerino, G and Carrozzo, R and Bick, D and Campbell, L and Hamel, B and Ferguson-Smith, M A and Gimelli, G},
abstractNote = {Mendelian inherited disorders to deletions of adjacent genes on a chromosome have been described as contiguous gene syndromes. Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combination in 27 patients with interstitial and terminal deletions involving the distal short are of the X chromosome. The use of cDNA and genomic probes from the Xp22-pter region allowed us to identify 12 different deletion intervals and to confirm, and further refine, the chromosomal assignment of X-linked recessive chondrodysplasia punctata and Kallmann syndrome genes. A putative pseudoautosomal gene affecting height and an X-linked nonspecific mental retardation gene have been tentatively assigned to specific intervals. The deletion panel described is a useful tool for mapping new sequences and orienting chromosome walks in the region.},
doi = {10.1073/pnas.86.24.10001},
url = {https://www.osti.gov/biblio/7137825}, journal = {Proceedings of the National Academy of Sciences of the United States of America; (USA)},
issn = {0027-8424},
number = ,
volume = 86:24,
place = {United States},
year = {Fri Dec 01 00:00:00 EST 1989},
month = {Fri Dec 01 00:00:00 EST 1989}
}