Literature DB >> 965012

Deletion of the short arms of chromosome 20.

D K Kalousek, S Thérien.   

Abstract

A 46, XX, del(20) (p11) karyotype (Paris Conference, 1971) was identified in an 11-month-old French-Canadian girl with a dysmorphic syndrome, multiple congenital anomalies, psychomotor and growth retardation. Both parents had normal phenotype and karyotype.

Entities:  

Mesh：

Year:  1976        PMID： 965012     DOI： 10.1007/BF00284443

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


  8 in total

1.  Clustering of aberrations to specific chromosomes in human neoplasms.

Authors:  G Levan; F Mitelman
Journal:  Hereditas       Date:  1975       Impact factor: 3.271

2.  A familial F/G translocation [t(p-; 22q+)] observed in three generations.

Authors:  M M Cohen; R G Davidson; J A Brown
Journal:  Clin Genet       Date:  1975-02       Impact factor: 4.438

3.  A case of trisomy 20?

Authors:  J Wahlström; J Borsgärd; K G Sabel
Journal:  Clin Genet       Date:  1976-02       Impact factor: 4.438

4.  [Multiple congenital malformations in a boy with a chromosome abnormality of the group F (46-XY, 20-P), the son of a clinically healthy subject with an analogous chromosome malformation].

Authors:  G Loiodice; D G Rovetta; G Bellicini; G Callura; F Bergamo
Journal:  Minerva Pediatr       Date:  1970-05-26       Impact factor: 1.312

5.  Ring F chromosome mosaicism (46,XY,20r-46,XY) in an epileptic child without apparent haematological disease.

Authors:  M Faed; H G Morton; J Robertson
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

6.  Ring formation of chromosomes nos. 19 and 20.

Authors:  I A Uchida; C C Lin
Journal:  Cytogenetics       Date:  1972

7.  Trisomy for short arm of chromosome 20.

Authors:  I Subrt; V Brychnác
Journal:  Humangenetik       Date:  1974

8.  A ring-20 chromosome.

Authors:  L Atkins; W L Miller; M Salam
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318
  8 in total
  5 in total

Review 1.  Alagille syndrome and deletion of 20p.

Authors:  F Anad; J Burn; D Matthews; I Cross; B C Davison; R Mueller; M Sands; D M Lillington; E Eastham
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

2.  Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome?

Authors:  M H Breuning; J B Bijlsma; H F de France
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

3.  Chromosome 20 deletion in human multiple endocrine neoplasia types 2A and 2B: a double-blind study.

Authors:  V R Babu; D L Van Dyke; C E Jackson
Journal:  Proc Natl Acad Sci U S A       Date:  1984-04       Impact factor: 11.205

4.  Familial ring (20) chromosomal mosaicism.

Authors:  E Back; I Voiculescu; M Brünger; G Wolff
Journal:  Hum Genet       Date:  1989-09       Impact factor: 4.132

5.  Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome).

Authors:  S Schnittger; C Höfers; P Heidemann; F Beermann; I Hansmann
Journal:  Hum Genet       Date:  1989-10       Impact factor: 4.132
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.