Literature DB >> 903151

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

C Beighle, L E Karp, J W Hanson, J G Hall, H Hoehn.   

Abstract

Two patients are described whose clinical features are interpreted as resulting from simple deletion of, respectively, bands p12 and q242 of chromosome 8.

Entities:  

Mesh：

Year:  1977        PMID： 903151     DOI： 10.1007/bf00295814

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


  22 in total

1.  Deletion - translocation del (12) (p11) leads to (t10;12) (p13;pII).

Authors:  J Nielsen; K Rasmussen; E Niebuhr
Journal:  Ann Genet       Date:  1976-03

2.  [Partial deletion of the short arm of chromosome 8].

Authors:  L Taillemite; J Channarond; H Tinel; N Muliez; C H Roux
Journal:  Ann Genet       Date:  1975-12

3.  Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome.

Authors:  R Ladda; L Atkins; J Littlefield; P Neurath; K M Marimuthu
Journal:  Science       Date:  1974-08-30       Impact factor: 47.728

4.  Partial trisomy 8 (8q24) and the trisomy-8 syndrome.

Authors:  O Sánchez; J J Yunis
Journal:  Humangenetik       Date:  1974

5.  A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands.

Authors:  J Sehested
Journal:  Humangenetik       Date:  1974-01-22

6.  [New system of chromosome banding: the T bands (author's transl)].

Authors:  B Dutrillaux
Journal:  Chromosoma       Date:  1973-04-27       Impact factor: 4.316

7.  An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques.

Authors:  B Dutrillaux; J Jonasson; K Laurèn; J Lejeune; J Lindsten; G B Petersen; P Saldaña-Garcia
Journal:  Ann Genet       Date:  1973-03

8.  Functional implications of differential chromosome banding.

Authors:  H Hoehn
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

9.  A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p- chromosome constitution.

Authors:  E Orye; M Craen
Journal:  Clin Genet       Date:  1976-03       Impact factor: 4.438

10.  Familial inversion of chromosome No. 8: an affected child and a carrier fetus.

Authors:  A Fujimoto; M G Wilson; J W Towner
Journal:  Humangenetik       Date:  1975
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  15 in total

1.  Localization of the spherocytosis gene to chromosome segment 8p11.22----8p21.

Authors:  M Kitatani; H Chiyo; M Ozaki; S Shike; S Miwa
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

2.  Partial monosomy 8p with minimal dysmorphic signs.

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

3.  Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21).

Authors:  J P Fryns; N Logghe; M Van Eygen; H Van Der Berghe
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

4.  Pure chromosome-specific PCR libraries from single sorted chromosomes.

Authors:  D R VanDevanter; N M Choongkittaworn; K A Dyer; J Aten; P Otto; C Behler; E M Bryant; P S Rabinovitch
Journal:  Proc Natl Acad Sci U S A       Date:  1994-06-21       Impact factor: 11.205

5.  Familial inversion translocation (8;13) with partial trisomy 13 in several family members.

Authors:  B Pilgaard; E Jørgensen; V S Knudsen; E Mortensen; M Mikkelsen
Journal:  Eur J Pediatr       Date:  1983-04       Impact factor: 3.183

6.  Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?

Authors:  E M Bühler; U K Bühler; R Christen
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23.

Authors:  C Turleau; F Chavin-Colin; J de Grouchy; P Maroteaux; H Rivera
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

8.  "Microcytogenetics" and Langer-Giedion syndrome.

Authors:  M Frontali; M Ramenghi; S Trabace; B Dallapiccola
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

9.  Complex translocation in a boy with trichorhinophalangeal syndrome.

Authors:  L M Sánchez; J D Labarta; T C De Negrotti; A M Migliorini
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

10.  Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8.

Authors:  D V Zaletajev; G S Marincheva
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
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