Literature DB >> 858619

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

E Yunis, H Egel, R Zúñiga, E Ramirez, O M Torres de Caballero, M Leibovici.   

Abstract

Minor abnormalities are described in an 11-month-old female in which a "de novo" trisomy 1q32 leads to lqter and a monosomy 3p25 leads to ter has been produced. The amount of the exceeding material in this case is less than that found in previous reports of partial trisomy 1q and in cases of parental 1q balanced translocations which has originated recurrent abortions.

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Year:  1977        PMID： 858619     DOI： 10.1007/BF00390442

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


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

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

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

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

4.  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

5.  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
  5 in total
  11 in total

1.  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

2.  Three children with partial trisomy 1q and partial monosomy 3p.

Authors:  G T McCarthy; C N Fear; A C Berry
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

3.  Omphalocele and partial trisomy 1q syndrome.

Authors:  H Chen; J J Gershanik; J B Mailhes; I D Sanusi
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

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

Authors:  A Bonfante; M Stella; G Rossi
Journal:  Hum Genet       Date:  1978-12-29       Impact factor: 4.132

5.  Monosomy 1pter.

Authors:  E Yunis; L Quintero; M Leibovici
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  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

7.  Partial trisomy of chromosome no. 1 in two adult brothers due to maternal translocation (1q--;6p+).

Authors:  K Taysi; G S Sekhon
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132

8.  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

9.  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

10.  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
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