Literature DB >> 9475102

Partial trisomy 1(q42-->qter): a new case with a mild phenotype.

D Concolino1, R Cinti, L Ferraro, M T Moricca, P Strisciuglio.   

Abstract

We report a female patient with a 46,XX,der(8)t(1;8)(q42.1;p23.3) karyotype who had a mild phenotype characterised by a few subtle dysmorphic features and mild developmental retardation, probably resulting from trisomy 1q42-->qter. The deletion on the short arm of the chromosome 8 appeared to be confined to the distal chromosomal segment.

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Year:  1998        PMID： 9475102      PMCID： PMC1051194          DOI： 10.1136/jmg.35.1.75

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  15 in total

1.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

Review 2.  Duplication of the distal part of the long arm of chromosome 1.

Authors:  V P Johnson
Journal:  Am J Med Genet       Date:  1991-06-01

Review 3.  Deficiency of distal 8p--report of two cases and review of the literature.

Authors:  V Pecile; M G Petroni; M C Fertz; G Filippi
Journal:  Clin Genet       Date:  1990-04       Impact factor: 4.438

4.  Partial monosomy 8p with minimal dysmorphic signs.

Authors:  E Blennow; K Bröndum-Nielsen
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

5.  Partial duplication 1q: report of four patients and review of the literature.

Authors:  S A Rasmussen; J L Frias; C Z Lafer; D L Eunpu; E H Zackai
Journal:  Am J Med Genet       Date:  1990-06

6.  Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:).

Authors:  J P Fryns; A Kleczkowska; A Vogels; H Van den Berghe
Journal:  Ann Genet       Date:  1989

7.  Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.

Authors:  B L Wu; G H Schneider; D E Sabatino; L Z Bozovic; B Cao; B R Korf
Journal:  Am J Med Genet       Date:  1996-03-01

8.  Trisomy (1q)(q42----qter): confirmation of a syndrome.

Authors:  N L Chia; L R Bousfield; C C Poon; B J Trudinger
Journal:  Clin Genet       Date:  1988-10       Impact factor: 4.438

9.  Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: a study of four individuals in two families.

Authors:  R M Liberfarb; W R Breg; L Atkins; L B Holmes
Journal:  Am J Med Genet       Date:  1979

10.  Distal 8p deletion (8p23.1----8pter): a common deletion?

Authors:  R Hutchinson; M Wilson; L Voullaire
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318
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  4 in total

1.  Partial 1q Duplications and Associated Phenotype.

Authors:  Marcos L M Morris; José E Baroneza; Patricia Teixeira; Cristina T N Medina; Mara S Cordoba; Beatriz R Versiani; Liege L Roese; Erika L Freitas; Ana C S Fonseca; Maria C G Dos Santos; Aline Pic-Taylor; Carla Rosenberg; Silviene F Oliveira; Iris Ferrari; Juliana F Mazzeu
Journal:  Mol Syndromol       Date:  2016-02-04

2.  Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.

Authors:  Alicia Cervantes; Constanza García-Delgado; Fernando Fernández-Ramírez; Carolina Galaz-Montoya; Ariadna Berenice Morales-Jiménez; Karem Nieto-Martínez; Laura Gómez-Laguna; Judith Villa-Morales; Mónica Quintana-Palma; Jaime Berúmen; Susana Kofman; Verónica F Morán-Barroso
Journal:  BMC Med Genomics       Date:  2014-09-15       Impact factor: 3.063

3.  Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.

Authors:  Beata Aleksiūnienė; Rugilė Matulevičiūtė; Aušra Matulevičienė; Birutė Burnytė; Natalija Krasovskaja; Laima Ambrozaitytė; Violeta Mikštienė; Vaidas Dirsė; Algirdas Utkus; Vaidutis Kučinskas
Journal:  Medicine (Baltimore)       Date:  2017-04       Impact factor: 1.889

4.  Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization.

Authors:  Yong Beom Shin; Sang Ook Nam; Eul-Ju Seo; Hyung-Hoi Kim; Chulhun L Chang; Eun-Yup Lee; Han-Chul Son; Sang-Hyun Hwang
Journal:  J Korean Med Sci       Date:  2008-12-24       Impact factor: 2.153
  4 in total

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