Literature DB >> 8558557

Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.

J J Engelen1, C E de Die-Smulders, J M Sijstermans, L E Meers, J C Albrechts, A J Hamers.   

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Year:  1995        PMID： 8558557      PMCID： PMC1051702          DOI： 10.1136/jmg.32.10.792

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


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  24 in total

1.  Inv dup (8) (p21.1----22.1): further case report and a new hypothesis on the origin of the chromosome abnormality.

Authors:  M Gorinati; D Caufin; A Minelli; L Memo; G Gaspardo; A Dodero
Journal:  Clin Genet       Date:  1991-01       Impact factor: 4.438

2.  [Chromosome 8 : complete trisomy and segmental trisomies].

Authors:  M O Rethoré; A Aurias; J Couturier; B Dutrillaux; M Prieur; J Lejeune
Journal:  Ann Genet       Date:  1977-03

3.  Partial monosomy 8p with minimal dysmorphic signs.

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

4.  Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1----p22).

Authors:  J P Fryns; A Kleczkowska; A M Dereymaker; M Hoefnagels; G Heremans; J Marien; H van den Berghe
Journal:  Clin Genet       Date:  1985-12       Impact factor: 4.438

5.  Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8p.

Authors:  J F Mattei; M G Mattei; J P Ardissone; J Coignet; F Giraud
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

6.  Duplication-deficiency of the short arm of chromosome 8 following artificial insemination.

Authors:  R G Weleber; R S Verma; W J Kimberling; H G Fieger; H A lubs
Journal:  Ann Genet       Date:  1976-12

7.  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

8.  Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation.

Authors:  K Hongell; S Knuutila; T Westermarck
Journal:  Clin Genet       Date:  1978-02       Impact factor: 4.438

9.  High resolution R- and G-banding on the same preparation.

Authors:  B Dutrillaux; E Viegas-Pequignot
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  Inverted tandem ("mirror") duplications in human chromosomes: -nv dup 8p, 4q, 22q.

Authors:  K M Taylor; U Francke; M G Brown; D L George; M Kaufhold
Journal:  Am J Med Genet       Date:  1977
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  6 in total

1.  A case of partial trisomy of chromosome 8p associated with autism.

Authors:  Katerina Papanikolaou; Elena Paliokosta; Jolanda Gyftodimou; Gerassimos Kolaitis; Sofia Vgenopoulou; Catherine Sarri; John Tsiantis
Journal:  J Autism Dev Disord       Date:  2006-07

2.  A prenatal tertiary trisomy resulting from balanced maternal 8; 9 translocation.

Authors:  Gülsüm Kayhan; Mehmet Ali Ergün; Aydan Asyalı Biri; Meral Yirmibeş Karaoğuz
Journal:  J Turk Ger Gynecol Assoc       Date:  2011-09-01

Review 3.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

4.  Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.

Authors:  Joanna Pietrzak; Kristin Mrasek; Ewa Obersztyn; Pawel Stankiewicz; Nadezda Kosyakova; Anja Weise; Sau Wai Cheung; Wei Wen Cai; Ferdinand von Eggeling; Tadeusz Mazurczak; Ewa Bocian; Thomas Liehr
Journal:  J Appl Genet       Date:  2007       Impact factor: 3.240

Review 5.  Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Authors:  A S Plomp; J J Engelen; J C Albrechts; C E de Die-Smulders; A J Hamers
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

6.  A Novel 1.0 Mb Duplication of Chromosome 8p22-21.3 in a Patient With Autism Spectrum Disorder.

Authors:  Ping Dong; Qiong Xu; Yu An; Bing-Rui Zhou; Ping Lu; Ren-Chao Liu; Xiu Xu
Journal:  Child Neurol Open       Date:  2015-07-03
  6 in total

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