Literature DB >> 738734

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

S Yanagisawa, H Yokoyama, N Agena.   

Abstract

A female infant with partial trisomy 13, 46,XX,der(5),t(5;13) (p15;q22)mat, for the distal part of the long arm is reported. The clinical and autopsy findings were similar to those of complete trisomy 13, except for harelip and cleft palate, and sloping forehead. Fetal hemoglobin and nuclear appendages in polymorphonuclear leukocytes were normal. Loci for these traits are discussed.

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Year:  1978        PMID： 738734     DOI： 10.1007/bf00278733

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


  12 in total

1.  Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim.

Authors:  A Schinzel; W Schmid
Journal:  Humangenetik       Date:  1974

2.  Trisomy 13 with a 13-X translocation.

Authors:  B F Crandall; R E Carrel; J Howard; W A Schroeder; H Müller
Journal:  Am J Hum Genet       Date:  1974-05       Impact factor: 11.025

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

Authors:  J P Fryns; E Eggermont; H Verresen; H van den Berghe
Journal:  Humangenetik       Date:  1974-01-22

4.  Trisomy for the proximal segment of the long arm of chromosome 13: a new entity?

Authors:  J I Escobar; J J Yunis
Journal:  Am J Dis Child       Date:  1974-08

5.  Trisomy for the distal segment of chromosome 13: a new syndrome.

Authors:  J I Escobar; O Sanchez; J J Yunis
Journal:  Am J Dis Child       Date:  1974-08

6.  Duplication-deficiency product of a pericentric inversion in man: a cause of D 1 trisomy syndrome.

Authors:  K Taysi; M Bobrow; S Balci; K Madan; M Atasu; B Say
Journal:  J Pediatr       Date:  1973-02       Impact factor: 4.406

7.  Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

Authors:  A I Taylor
Journal:  J Med Genet       Date:  1968-09       Impact factor: 6.318

8.  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

9.  A family with balanced D1-Cs-translocation carriers and unbalanced offspring.

Authors:  G R Stalder; E M Buhler; G Gadola; R Widmer; F Freuler
Journal:  Humangenetik       Date:  1964

10.  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
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  8 in total

1.  A girl with partial trisomy 5q35-->qter and partial trisomy 13pter-->q31 derived via a maternal balanced translocation.

Authors:  Atsushi Uchiyama; Noriyuki Haneda; Kyoko Saito; Satomi Miyamoto; Yuichi Takusa; Rie Kanai; Masahiko Kimura; Hitoshi Sejima; Seiji Yamaguchi
Journal:  Eur J Pediatr       Date:  2002-04-16       Impact factor: 3.183

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.  Familial translocation leading to partial trisomy 13: report of three cases.

Authors:  S A Tharapel; R C Lewandowski; M K Kukolich
Journal:  Indian J Pediatr       Date:  1984 Jul-Aug       Impact factor: 1.967

4.  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

5.  Trisomy 13 in a 4-year-old child.

Authors:  C Fernández-Novoa; A Hevia; J J Martínez; V San Martín; H Galera
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

6.  Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis.

Authors:  Ruth Mikelsaar; Mari Nelis; Ants Kurg; Olga Zilina; Paul Korrovits; Ranno Rätsep; Maie Väli
Journal:  J Appl Genet       Date:  2011-11-29       Impact factor: 3.240

7.  Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34.

Authors:  Uppala Radhakrishna; Uppala Ratnamala; Mathew Gaines; Soraya Beiraghi; David Hutchings; Jeffrey Golla; Syed A Husain; Prakash S Gambhir; Jayesh J Sheth; Frenny J Sheth; Ghati K Chetan; Mohammed Naveed; Jitendra V Solanki; Uday C Patel; Dilipkumar C Master; Rafiq Memon; Gregory S Antonarakis; Stylianos E Antonarakis; Swapan K Nath
Journal:  Am J Hum Genet       Date:  2006-07-21       Impact factor: 11.025

8.  The aetiology of the cat eye syndrome reconsidered.

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

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