Literature DB >> 649151

Partial monosomy 13 and 21 due to a familial 13/21 translocation.

P G Otto, S Toledo, A Richieri-Costa, P A Otto, A M Vianna-Morgante, S Kasahara.   

Abstract

Two patients are described with a monosomy for the proximal part of the long are of chromosome 13 and for the distal part of the long arm of chromosome 21, due to an unbalanced 13/21 translocation.

Entities:  

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Year:  1978        PMID： 649151     DOI： 10.1007/BF00284757

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


  10 in total

1.  Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

Authors:  R H Lindenbaum; M Bobrow
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

2.  New chromosomal syndromes.

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

3.  Deletion of long arms of chromosome 13.

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

4.  High resolution of human chromosomes.

Authors:  J J Yunis
Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

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

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

6.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

7.  Retinoblastoma and D-chromosome deletions.

Authors:  E Orye; M J Delbeke; B Vandenabeele
Journal:  Lancet       Date:  1971-12-18       Impact factor: 79.321

8.  Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes.

Authors:  R J Warren; D L Rimoin; R L Summitt
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

9.  A "G" deletion syndrome anti-mongolism.

Authors:  H G Richmond; P MacArthur; D Hunter
Journal:  Acta Paediatr Scand       Date:  1973-03

10.  The G deletion syndromes.

Authors:  R J Warren; D L Rimoin
Journal:  J Pediatr       Date:  1970-10       Impact factor: 4.406
  10 in total
  2 in total

1.  Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Authors:  Z Chettouh; M F Croquette; B Delobel; S Gilgenkrants; C Leonard; C Maunoury; M Prieur; M O Rethoré; P M Sinet; M Chery
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

2.  Unbalanced 13;18 translocation and Williams syndrome.

Authors:  A Colley; Y Thakker; H Ward; D Donnai
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318
  2 in total

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