Literature DB >> 4837512

Partial trisomy 13: karyotype 46,XY,-6, plus t(13q,6q).

J P Fryns, E Eggermont, H Verresen, H van den Berghe.   

Abstract

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Year:  1974        PMID： 4837512     DOI： 10.1007/bf00278564

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


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  31 in total

1.  DEOXYRIBONUCLEIC-ACID REPLICATION PATTERN OF TRISOMY D1.

Authors:  J J YUNIS; E B HOOK; M MAYER
Journal:  Lancet       Date:  1964-10-31       Impact factor: 79.321

2.  A PROBABLE CASE OF INCOMPLETE TRISOMY OF A CHROMOSOME OF THE 13-15 GROUP.

Authors:  J ISHMAEL; K M LAURENCE
Journal:  J Med Genet       Date:  1965-06       Impact factor: 6.318

3.  Quinacrine fluorescence for identifying metaphase chromosomes, with special reference to photomicrography.

Authors:  W R Breg
Journal:  Stain Technol       Date:  1972-03

Review 4.  Chromosomal variability in the D1 trisomy syndrome. Three cases and review of the literature.

Authors:  M B Taylor; R C Juberg; B Jones; W A Johnson
Journal:  Am J Dis Child       Date:  1970-10

5.  Quinacrine fluorescence patterns of human D group chromosomes.

Authors:  D A Miller; P W Allderdice; O J Miller; W R Breg
Journal:  Nature       Date:  1971-07-02       Impact factor: 49.962

6.  The Rubinstein-Taybi Syndrome: chromosomal studies.

Authors:  N E Simpson
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

7.  A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.

Authors:  E M Short; G B Solitare; W R Breg
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

8.  Additional small acrocentric chromosome: two cases.

Authors:  J Nielsen; T Tsuboi; U Friedrich; M Mikkelsen; B Lund; O Steinicke
Journal:  J Ment Defic Res       Date:  1969-06

9.  Probable 3/13-15 chromosome translocation with D1 trisomy syndrome.

Authors:  L Atkins; M E Keenan
Journal:  J Pediatr       Date:  1965-11       Impact factor: 4.406

10.  Frequency and occurrence of chromosomal syndromes. I. D-Trisomy.

Authors:  P E Conen; B Erkman
Journal:  Am J Hum Genet       Date:  1966-07       Impact factor: 11.025
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  9 in total

1.  Familial C/D translocation t(9;13)(9p23.13q21) in a male associated with recurrent abortion.

Authors:  D Singh-Kahlon; A Serra
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

2.  Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Authors:  S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

3.  Partial trisomy 13q21toqter de novo due to a recombinant chromosome rec(13)dup q.

Authors:  M Habedank
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132

4.  Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

Authors:  H J Kim; L Y Hsu; L C Goldsmith; L Strauss; K Hirschhorn
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

5.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Partial distal trisomy 13q resulting from familial reciprocal 5/13 translocation.

Authors:  S Yanagisawa; H Yokoyama; N Agena
Journal:  Hum Genet       Date:  1978-12-29       Impact factor: 4.132

7.  Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31.

Authors:  E Yunis; R Zuñiga; E Ramírez
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

8.  The aetiology of the cat eye syndrome reconsidered.

Authors:  G Guanti
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

9.  Excess of mental retardation and/or congenital malformation in reciprocal translocations in man.

Authors:  J P Fryns; A Kleczkowska; E Kubień; H Van den Berghe
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132
  9 in total

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