Literature DB >> 466853

Partial trisomy 1q syndrome.

H Rehder, U Friedrich.   

Abstract

Six cases of partial trisomy 1q, including four cases from the literature and our own two observations are summarized with respect to their clinical symptoms. Distinct similarities of the external aspect and of internal malformations allow the delineation of a syndrome of partial trisomy 1q.

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Mesh：

Year:  1979        PMID： 466853     DOI： 10.1111/j.1399-0004.1979.tb00838.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  8 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.  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

4.  Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations.

Authors:  M Kucerová; Z Polívková; S Dluholucký; M Kvasnicová
Journal:  Am J Hum Genet       Date:  1983-01       Impact factor: 11.025

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

8.  Severe myocarditis due to influenza A(H1N1)pdm09 viral infection in a young woman successfully treated with intravenous zanamivir: A case report.

Authors:  Maria Mazzitelli; Eugenio Garofalo; Andrea Bruni; Giorgio Settimo Barreca; Angela Quirino; Aida Giancotti; Francesca Serapide; Ciro Indolfi; Giovanni Matera; Paolo Navalesi; Enrico Maria Trecarichi; Carlo Torti; Federico Longhini
Journal:  Clin Case Rep       Date:  2019-10-21
  8 in total

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