Literature DB >> 437777

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

G I Lazjuk, I W Lurie, Y I Usova, D B Gurevich, M K Nedzved.   

Abstract

An additional small G-like chromosome was found in a newborn female with multiple abnormalities and hemorrhagic diathesis. G banding showed that the index patient was trisomic for the short arm of chromosome 8 and revealed the anomaly t(8;15)(q12;p11) in her mother. The relationship between chromosome 8 and multiple hemorrhages is discussed.

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Year:  1979        PMID: 437777     DOI: 10.1007/bf00273318

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


  12 in total

1.  Coagulation studies in patients with trisomy 8 syndrome.

Authors:  S Stenbjerg; S Husted; A Bernsen; P Jacobsen; J Nielsen; K Rasmussen
Journal:  Ann Genet       Date:  1975-12

2.  New chromosomal malformation syndromes. I. Partial monosomy 8p. An attempt to establish a new chromosome deletion syndrome.

Authors:  A Rodewald; S Stengel-Rutkowski; P Schulz; H Cleve
Journal:  Eur J Pediatr       Date:  1977-04-26       Impact factor: 3.183

3.  Trisomy 8: an international study of 70 patients.

Authors:  V M Riccardi
Journal:  Birth Defects Orig Artic Ser       Date:  1977

4.  [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

5.  [Coagulation factor VII deficiency in 3 patients with trisomy 8].

Authors:  J de Grouchy; F Josso; S Beguin; C Turleau; P Jalbert; C Laurent
Journal:  Ann Genet       Date:  1974-06

6.  Partial trisomy 8: further observation of a familial C-G translocation chromosome identified by the Q-staining methods.

Authors:  S Yanagisawa
Journal:  J Ment Defic Res       Date:  1973-03

7.  A case of patient with 46, XY, Ep+mat.

Authors:  S Sonta; H Oishi; K Tsuda
Journal:  Jinrui Idengaku Zasshi       Date:  1974-06

8.  Trisomy of the short arm of chromosome 8: association with translocation between chromosomes 8 and 22 46,XY,22-,t(8p22q) plus.

Authors:  I M Rosenthal; E Krmpotic; M Bocian; K Szego
Journal:  Clin Genet       Date:  1973-06       Impact factor: 4.438

9.  Familial C-G translocation in three relatives associated with severe mental retardation, short stature, unusual dermatoglyphics and other malformations.

Authors:  S Yanagisawa; K Hiraoka
Journal:  J Ment Defic Res       Date:  1971-06

10.  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
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  7 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.  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

3.  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 4.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation.

Authors:  L A Jones; D R Dengler; K Taysi; G D Shackelford; A F Hartmann
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

Review 6.  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

7.  Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

Authors:  M C Digilio; A Giannotti; G Floridia; F Uccellatore; R Mingarelli; C Danesino; B Dallapiccola; O Zuffardi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

  7 in total

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