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Literature DB >> 4140835

Partial trisomy 8: trisomy of the distal part of the long arm of chromosome number 8 plus (8q2) in a severely retarded and malformed girl.

J P Fryns, H Verresen, H Van den Berghe.

Abstract

Entities: Disease Species

Mesh：

Year: 1974 PMID： 4140835 DOI： 10.1007/bf00283593

Source DB: PubMed Journal: Humangenetik ISSN： 0018-7348

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7 in total

1. Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques.

Authors: T Caspersson; J Lindsten; L Zech; K E Buckton; W H Price
Journal: J Med Genet Date: 1972-03 Impact factor: 6.318

2. [Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)].

Authors: R A Pfeiffer; H G Lenard
Journal: Klin Padiatr Date: 1973-05 Impact factor: 1.349

3. An attempt to establish trisomy 8 syndrome.

Authors: S Kakati; M Nihill; A K Sinha
Journal: Humangenetik Date: 1973-09-20

4. C8 trisomy mosaicism syndrome.

Authors: J B Bijlsma; J C Wijffels; W H Tegelaers
Journal: Helv Paediatr Acta Date: 1972-07

5. 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

6. [Translocation 8-22 with no length change and partial trisomy for 8q. Detection by heat denaturation].

Authors: J Lejeune; M O Rethore; B Dutrillaux; G Martin
Journal: Exp Cell Res Date: 1972-09 Impact factor: 3.905

7. [Study by fluorescence of a trisomy C mosaic, probably 8: 46,XY-47,XY,?8+].

Authors: J de Grouchy; C Turleau; C Léonard
Journal: Ann Genet Date: 1971-03

7 in total

9 in total

1. Nonrandom distribution of exchange points in patients with structural rearrangements.

Authors: Y Nakagome; H Chiyo
Journal: Am J Hum Genet Date: 1976-01 Impact factor: 11.025

2. A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

Authors: A Bottani; Y G Xie; F Binkert; A Schinzel
Journal: Hum Genet Date: 1991-10 Impact factor: 4.132

3. 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

Partial trisomy 8: trisomy of the distal part of the long arm of chromosome number 8 plus (8q2) in a severely retarded and malformed girl.

1. Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques.

2. [Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)].

3. An attempt to establish trisomy 8 syndrome.

4. C8 trisomy mosaicism syndrome.

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

6. [Translocation 8-22 with no length change and partial trisomy for 8q. Detection by heat denaturation].

7. [Study by fluorescence of a trisomy C mosaic, probably 8: 46,XY-47,XY,?8+].

1. Nonrandom distribution of exchange points in patients with structural rearrangements.

2. A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

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

4. Partial trisomy 15q1.

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

6. Small structural changes of chromosome 8. Two cases with evidence for deletion.

7. Corneal opacities--a diagnostic feature of the trisomy 8 mosaic syndrome.

8. Functional implications of differential chromosome banding.

9. Partial trisomy 11q as the result of sporadic translocation.