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PMID: 5079109 Published · ppublish English Case Reports Journal Article

A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.

Journal of medical genetics ·Vol. 9 ·No. 3 ·1972-09-00 ·Pages 367-73

Short EM, Solitare GB, Breg WR

Abstract

暂无摘要

MeSH Terms
Adult Blood Group Antigens Child Chromosome Aberrations Chromosome Disorders Chromosomes, Human, 13-15 Chromosomes, Human, 6-12 and X Diagnosis, Differential Female Humans Infant, Newborn Infant, Newborn, Diseases/genetics Karyotyping Leukocytes/cytology Male Microscopy, Fluorescence Pedigree Quinacrine Resorcinols Syndrome Trisomy
Chemicals
Blood Group Antigens Resorcinols Quinacrine
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Short E M
Solitare G B
Breg W R
References (13)
13 references, click to expand
  1. Quinacrine fluorescence for identifying metaphase chromosomes, with special reference to photomicrography.
    Stain Technol. 1972 Mar;47(2):87-93 PMID: 4113107
  2. Quinacrine fluorescence patterns of human D group chromosomes.
    Nature. 1971 Jul 2;232(5305):24-7 PMID: 4253680
  3. Chromosomal variability in the D1 trisomy syndrome. Three cases and review of the literature.
    Am J Dis Child. 1970 Oct;120(4):374-81 PMID: 4250203
  4. [Trisomy D2 in a 2 and one-half year old girl (47,XX,14+)].
    Humangenetik. 1970;10(3):254-68 PMID: 5475510
  5. A rare translocation (47,XY,t(2p-;21q+),21+) associated with Down's syndrome.
    J Med Genet. 1970 Dec;7(4):389-93 PMID: 4250981
  6. Identification of translocation chromosomes by quinacrine fluorescence.
    Am J Dis Child. 1972 Jun;123(6):561-4 PMID: 4113489
  7. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.
    J Med Genet. 1968 Sep;5(3):227-52 PMID: 5708029
  8. Siblings with different types of chromosal aberrations due to D-E-translocation of the mother.
    Cytogenetics. 1966;5(5):281-94 PMID: 6006217
  9. Reciprocal translocations.
    Br Med Bull. 1969 Jan;25(1):110-4 PMID: 5782753
  10. Multiple congenital anomaly caused by an extra autosome.
    Lancet. 1960 Apr 9;1(7128):790-3 PMID: 14430807
  11. TRANSLOCATION IN THE 13-15 GROUP AS A CAUSE OF PARTIAL TRISOMY AND SPONTANEOUS ABORTION IN THE SAME FAMILY.
    Lancet. 1963 Sep 14;2(7307):584-5 PMID: 14049598
  12. The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability.
    Hereditas. 1972;67(1):89-102 PMID: 4142006
  13. Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence.
    Humangenetik. 1971;13(3):205-9 PMID: 5114675
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.9.3.367
Published
1972-09-00
Pages
367-73
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1469148
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.9.3.367 PMC Full Text View journal details
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