Literature DB >> 1126055

Two cases of 8p trisomy in one sibship.

H A Chiyo, Y Nakagome, I Matsui, Y Kuroki, H Kobayashi.   

Abstract

Two cases of 8p trisomy in one sibship are presented. The father was a balanced carrier of a translocation rcp (8;13) (p11; q34). Case 1 was a 2-year -old boy with multiple minor anomalies and severe mental retardation. Giemsa banding studies revealed that he was trisomic for the greater part of 8p (8p11 yields pter). When his mother became pregnant again, amniocentesis was carried out in the 17th week of gestation. The fetus (Case 2) was shown to have the same 8p trisomy as Case 1. The pregnancy was terminated in the 22nd week. An autopsy revealed no major anomalies. Clinical features of cases with 8 and 8p trisomy are reviewed briefly.

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Year:  1975        PMID: 1126055     DOI: 10.1111/j.1399-0004.1975.tb00337.x

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


  11 in total

1.  Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.

Authors:  C M Moore; K Barnum; C I Kaye; K S Kagan-Hallett; J C Liang
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

2.  Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome.

Authors:  A Schinzel
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

3.  Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213).

Authors:  B Dallapiccola; L Santoro; S Trabace; M Ramenghi; P Mastroiacovo; E Gandini
Journal:  Hum Genet       Date:  1977-09-22       Impact factor: 4.132

4.  Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat.

Authors:  G I Lazjuk; I W Lurie; Y I Usova; D B Gurevich; M K Nedzved
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

Review 5.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

6.  Trisomy for 8p21 leads to pter owing to a familial translocation.

Authors:  E F Allen; W E Hodgkin
Journal:  J Med Genet       Date:  1983-02       Impact factor: 6.318

7.  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

8.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

9.  Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale.

Authors:  J Burn; M Baraitser; D T Hughes; P Saldana-Garcia; J F Taylor
Journal:  Pediatr Cardiol       Date:  1984 Jan-Mar       Impact factor: 1.655

Review 10.  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

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