Literature DB >> 511172

Interstitial deletion of chromosome 13 and associated congenital anomalies.

W W Nichols, R C Miller, E Hoffman, D Albert, R R Weichselbaum, J Nove, J B Little.   

Abstract

An interstitial deletion of chromosome 13 with breakpoints at 13q22 and 13q32 is presented. The clinical findings associated with this deletion are discussed in relation to the correlations of specific chromosomal bands with constellations of congenital defects as described by Niebuhr and Ottosen (1973), Niebuhr (1977). Lewandowski and Yunis (1975), and Noel et al. (1976).

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Year:  1979        PMID： 511172     DOI： 10.1007/bf00271569

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  24 in total

1.  New chromosomal syndromes.

Authors:  R C Lewandowski; J J Yunis
Journal:  Am J Dis Child       Date:  1975-04

2.  Deletion of long arms of chromosome 13.

Authors:  M Kucerovă; Z Polívková; M Pokorná
Journal:  Humangenetik       Date:  1975

3.  Ring chromosome D (13) associated with multiple congenital malformations.

Authors:  E Niebuhr; J Ottosen
Journal:  Ann Genet       Date:  1973-09

4.  Retinoblastoma and D-chromosome deletions.

Authors:  M G Wilson; J W Towner; A Fujimoto
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

5.  The syndrome associated with the partial D-monosomy. Case report and review.

Authors:  D J Orbeli; I W Lurie; J L Goroshenko
Journal:  Humangenetik       Date:  1971

6.  Partial deletion of the long arm of chromosome no. 13.

Authors:  A Cuschieri; P V Agius; J M Scheres
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

7.  Sporadic bilateral retinoblastoma and 13q- chromosomal deletion.

Authors:  U Francke; F Kung
Journal:  Med Pediatr Oncol       Date:  1976

8.  Retinoblastoma and subband deletion of chromosome 13.

Authors:  J J Yunis; N Ramsay
Journal:  Am J Dis Child       Date:  1978-02

9.  Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

Authors:  B Noel; B Quack; M O Rethore
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438

10.  Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q.

Authors:  R S Sparkes; H Muller; I Klisak
Journal:  Science       Date:  1979-03-09       Impact factor: 47.728
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  3 in total

1.  Deletion of band 13q21 is compatible with normal phenotype.

Authors:  J Couturier; N Morichon-Delvallez; B Dutrillaux
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

2.  Dicentric chromosome 13 and centromere inactivation.

Authors:  S Schwartz; C G Palmer; D D Weaver; J Priest
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.

Authors:  S Brown; J Russo; D Chitayat; D Warburton
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025
  3 in total

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