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PMID: 903151 Published · ppublish English Case Reports Journal Article

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

Human genetics ·Vol. 38 ·No. 1 ·1977-08-31 ·Pages 113-21

Beighle C, Karp LE, Hanson JW, Hall JG, Hoehn H

Abstract

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

MeSH Terms
Adult Chromosome Aberrations/genetics Chromosome Disorders Chromosomes, Human, 6-12 and X Female Humans Infant Karyotyping
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Beighle C
Karp L E
Hanson J W
Hall J G
Hoehn H
References (22)
22 references, click to expand
  1. [New system of chromosome banding: the T bands (author's transl)].
    Chromosoma. 1973 Apr 27;41(4):395-402 PMID: 4127019
  2. A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands.
    Humangenetik. 1974 Jan 22;21(1):55-8 PMID: 4134931
  3. Partial trisomy 8 (8q24) and the trisomy-8 syndrome.
    Humangenetik. 1974;23(4):297-303 PMID: 4420964
  4. An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques.
    Ann Genet. 1973 Mar;16(1):11-6 PMID: 4124663
  5. Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome.
    Science. 1974 Aug 30;185(4153):784-7 PMID: 4367262
  6. Functional implications of differential chromosome banding.
    Am J Hum Genet. 1975 Sep;27(5):676-85 PMID: 51585
  7. [Partial deletion of the short arm of chromosome 8].
    Ann Genet. 1975 Dec;18(4):251-5 PMID: 1083196
  8. Familial inversion of chromosome No. 8: an affected child and a carrier fetus.
    Humangenetik. 1975;27(1):67-73 PMID: 49288
  9. A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p- chromosome constitution.
    Clin Genet. 1976 Mar;9(3):289-301 PMID: 1261067
  10. Deletion - translocation del (12) (p11) leads to (t10;12) (p13;pII).
    Ann Genet. 1976 Mar;19(1):53-5 PMID: 1084123
  11. Trisomy of the short arm of chromosome 8: association with translocation between chromosomes 8 and 22 46,XY,22-,t(8p22q) plus.
    Clin Genet. 1973 Jun;4(6):507-16 PMID: 4787842
  12. Unbalanced 13q/21q translocation: a revised study of the case previously reported as 21-monosomy.
    Hum Genet. 1976 Aug 30;33(3):327-30 PMID: 964993
  13. Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism. Ultrastructural studies of polymorphonuclear cells in peripheral blood.
    Clin Genet. 1976 Feb;9(2):134-42 PMID: 1248172
  14. DNA content and DNA-based centromeric index of the 24 human chromosomes.
    Science. 1973 Mar 16;179(4078):1126-9 PMID: 4120257
  15. Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome.
    Hum Genet. 1976 Dec 29;35(1):117-23 PMID: 1002161
  16. 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.
    Humangenetik. 1974;24(3):241-6 PMID: 4140835
  17. A large pericentric inversion of human chromosome 8.
    Am J Hum Genet. 1976 May;28(3):208-12 PMID: 944528
  18. Partial deletion of the short arm of chromosome 12(p11; p13). Report of a case.
    Ann Genet. 1975 Jun;18(2):95-8 PMID: 1081371
  19. [Translocation 8-22 with no length change and partial trisomy for 8q. Detection by heat denaturation].
    Exp Cell Res. 1972 Sep;74(1):293-5 PMID: 5073314
  20. The 9p- syndrome.
    Ann Genet. 1976 Mar;19(1):11-6 PMID: 1084115
  21. Autosomal deletions 46,XY,del(12)(p11) and 46,XY-46,XY,del(5)(p13) with no effect on physical or mental development.
    Humangenetik. 1974 Feb 21;21(2):127-32 PMID: 4134626
  22. Letter: Do only a few chromosomes carry genes of prime importance for malignant transformation?
    Lancet. 1976 Jul 31;2(7979):264 PMID: 59288
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1977-08-31
Pages
113-21
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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