Literature DB >> 429001

A case of D13 ring chromosome.

P Cossu, G Diana, M Mameli, S Cardia, A Milia, G Floris, A Cao.   

Abstract

A case of D ring chromosome identified with trypsin banding as a 13 with loss of the bands p12 and q34 is reported. The clinical features characteristically associated with the loss of these specific segments were present.

Entities:  

Mesh：

Year:  1979        PMID： 429001     DOI： 10.1007/bf00278909

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


  9 in total

1.  [The chromosome 13 in ring syndrome].

Authors:  F Giraud; J M Emberger; N Pinsard; J F Mattei; M G Mattei
Journal:  Pediatrie       Date:  1975-06

2.  D13 ring chromosome syndrome.

Authors:  A Mccandless; S Walker
Journal:  Arch Dis Child       Date:  1976-06       Impact factor: 3.791

3.  Parental origin of a ring 13 chromosome in a female with multiple anomalies.

Authors:  R E Magenis; H E Wyandt; K M Overton; J Macfarlane
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

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

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

5.  A rapid banding technique for human chromosomes.

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

6.  Ring chromosome 13 and haptoglobin heterozygosity.

Authors:  P H Fitzgerald
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

7.  Malformative syndrome with ring chromosome 13.

Authors:  J P Fryns; J Deoover; H Van den Berghe
Journal:  Humangenetik       Date:  1974

8.  The behavior of ring chromosome 13.

Authors:  J J Hoo; U Obermann; H Cramer
Journal:  Humangenetik       Date:  1974

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
  9 in total
  3 in total

1.  Interstitial deletion 13q syndromes: a report on two unrelated patients.

Authors:  M Serena-Lungarotti; A Calabro; G Mariotti; P P Mastroiacovo; S Provenzano; B Dallapiccola
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

Review 2.  Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.

Authors:  C A Brandt; J M Hertz; M B Petersen; F Vogel; H Noer; M Mikkelsen
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

3.  Clinical features in a case with ring chromosome 13.

Authors:  B Parcheta; L Wisniewski; E Piontek; J Szymanska; W Skawinski; K Wermenski
Journal:  Eur J Pediatr       Date:  1985-11       Impact factor: 3.183
  3 in total

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