Literature DB >> 738733

Partial trisomy of the long arm of chromosome 1 due to a familial translocation t(1;10) (q32;q26).

A Bonfante, M Stella, G Rossi.   

Abstract

A new case of partial trisomy for the long arm of chromosome 1 was observed in a newborn female, who died at age 26 days. The father was a proven carrier of a balanced translocation involving chromosomes 1 and 10.

Mesh:

Year:  1978        PMID: 738733     DOI: 10.1007/bf00278732

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


  9 in total

1.  Recurrent abortions and paternal balanced translocation t(lq--;13q+).

Authors:  D Rozynkowa; B Trebicka-Kwiatkowska; B Raczkiewicz; A Krzemiński
Journal:  Humangenetik       Date:  1975-08-25

2.  Partial trisomy of the long arm of human chromosome 1 as demostrated by in situ hybridization with 5S ribosomal RNA.

Authors:  D M Steffensen; E H Chu; D P Speert; P M Wall; K Meilinger; R P Kelch
Journal:  Hum Genet       Date:  1977-04-07       Impact factor: 4.132

3.  Trisomy of the long arm of human chromosome 1.

Authors:  T H Norwood; H Hoehn
Journal:  Humangenetik       Date:  1974

4.  Autosomal reciprocal translocations in newborn children and their relatives.

Authors:  U Friedrich; J Nielsen
Journal:  Humangenetik       Date:  1974-02-21

5.  Identification of human chromosomes by DNA-binding fluorescent agents.

Authors:  T Caspersson; L Zech; C Johansson; E J Modest
Journal:  Chromosoma       Date:  1970       Impact factor: 4.316

6.  Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+.

Authors:  H Van den Berghe; M Van Eygen; J P Fryns; W Tanghe; H Verresen
Journal:  Humangenetik       Date:  1973-05-25

7.  A partial trisomy of chromosome 1 in a family with a t(1q-;4q+) translocation.

Authors:  R L Neu; L I Gardner
Journal:  Clin Genet       Date:  1973-06       Impact factor: 4.438

8.  The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.

Authors:  M Seabright
Journal:  Chromosoma       Date:  1972       Impact factor: 4.316

9.  "De novo" trisomy 1q32 leads to 1qter and monosomy 3p25 leads to 3pter.

Authors:  E Yunis; H Egel; R Zúñiga; E Ramirez; O M Torres de Caballero; M Leibovici
Journal:  Hum Genet       Date:  1977-04-07       Impact factor: 4.132

  9 in total
  7 in total

1.  Partial 1q and 21p trisomies in a male child due to maternal t(1;21).

Authors:  S Rajangam; S Lincoln; S Hegde; I M Thomas
Journal:  Indian J Pediatr       Date:  1999 Mar-Apr       Impact factor: 1.967

2.  Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.

Authors:  H C Duba; M Erdel; J Löffler; L Bereuther; H Fischer; B Utermann; G Utermann
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

3.  Segregation and fertility analysis in an autosomal reciprocal translocation, t(1;8)(q41;q23.1).

Authors:  A E Vauhkonen; E M Sankila; K O Simola; A de la Chapelle
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

4.  Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318

5.  Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome.

Authors:  G Pierquin; N Van Regemorter; C Fourneau; J Bormans; M Foerster; E Damis; N Cremer-Perlmutter; C M Lapiere; E Vamos
Journal:  Hum Genet       Date:  1991-09       Impact factor: 4.132

6.  De novo duplication 1q32-q42: variability of phenotypic features in partial lq trisomics.

Authors:  M S Lungarotti; A Falorni; A Calabro; F Passalacqua; B Dallapiccola
Journal:  J Med Genet       Date:  1980-10       Impact factor: 6.318

7.  18q+, the progeny of a balanced translocation t(1;18)mat: case report with necropsy findings.

Authors:  A Hindi; D Beneck; M A Greco; S R Wolman
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

  7 in total

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