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PMID: 14295659 Published · ppublish English Journal Article Review

KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS.

Journal of medical genetics ·Vol. 2 ·No. 2 ·1965-06-00 ·Pages 142-55

FERGUSON-SMITH MA

Abstract

暂无摘要

Keywords
DIAGNOSIS KARYOMETRY REVIEW TURNER'S SYNDROME
MeSH Terms
Diagnosis Gonadal Dysgenesis Humans Karyometry Karyotype Karyotyping Phenotype Turner Syndrome
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
FERGUSON-SMITH M A
References (31)
31 references, click to expand
  1. The chromosomes of man.
    Nature. 1956 Nov 10;178(4541):1020-3 PMID: 13378517
  2. The occurrence of sex chromatin in early human and macaque embryos.
    J Anat. 1957 Jul;91(3):369-73 PMID: 13448995
  3. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).
    Lancet. 1959 Apr 4;1(7075):711-3 PMID: 13642858
  4. Congenital anomalies associated with gonadal aplasia; review of 55 cases.
    Pediatrics. 1959 May;23(5):885-902 PMID: 13645125
  5. [The syndrome of multiple malformations associated with gonadal dysgenesis (Turner syndrome) with XO chromosome formula].
    Union Med Can. 1960 Oct;89:1227-37 PMID: 13702926
  6. Triple mosaicism of the sex chromosomes in Turner's syndrome and Hirschsprung's disease.
    Lancet. 1961 Sep 16;2(7203):623-7 PMID: 13712537
  7. Chromosomal studies of patients with congenital anomalies simulating those of gonadal aplasia, including a case of true gonadal and sex reversal.
    N Engl J Med. 1961 May 18;264:1009-16 PMID: 13730542
  8. A new variant of human intersex with discussion on the developmental aspects.
    Br Med J. 1961 Aug 19;2(5250):474-7 PMID: 13750589
  9. Gene action in the X-chromosome of the mouse (Mus musculus L.).
    Nature. 1961 Apr 22;190:372-3 PMID: 13764598
  10. [Presumption of monozygotism in spite of a sexual dimorphism: XY male subject and haploid X neuter subject].
    C R Hebd Seances Acad Sci. 1961 May 8;252:2945-6 PMID: 13778771
  11. Abnormal sexual development associated with sex chromosome mosaicism. Report of three cases.
    Pediatrics. 1962 May;29:703-13 PMID: 13892575
  12. Triple chromosomal mosaic in a woman with clinical evidence of a masculinisation.
    Lancet. 1962 Jun 30;1(7244):1379-81 PMID: 13894416
  13. Multiple congenital defects in a twelve year old boy with cryptorchidism--"male Turner's syndrome".
    Metabolism. 1961 Dec;10:1074-84 PMID: 13896030
  14. Sex-chromosome abnormalities in a population of mentally defective children.
    Br Med J. 1962 Jan 27;1(5273):220-3 PMID: 13904093
  15. The triple-X syndrome. Clinical, pathological, and chromosomal studies in three mentally retarded cases.
    Br Med J. 1961 Oct 21;2(5259):1046-52 PMID: 14452136
  16. [Male Turnerian pseudohermaphroditism].
    Sem Hop. 1962 May 20;38:1699-705 PMID: 14461727
  17. Evidence that the Xg blood group genes are on the short arm of the X chromosome.
    Nature. 1963 Feb 16;197:648-9 PMID: 13930842
  18. [A case of chromatin-negative XY-XX mosaicism with gonadal dysgenesis and female phenotype sex].
    Rev Clin Esp. 1963 Mar 31;88:394-8 PMID: 13958844
  19. [A recent case of XX/XO in a case of Turner's syndrome].
    Sem Hop. 1962 Oct 14;38:3205-8 PMID: 13960721
  20. [Germinal aplasia and dwarfism].
    Dtsch Med Wochenschr. 1963 Apr 5;88:701-4 passim PMID: 13994206
  21. Syndrome of gonadal dysgenesis and abdominal testis with an XO/XY chromosome mosaicism.
    J Clin Endocrinol Metab. 1963 Jul;23:709-16 PMID: 13994895
  22. Apparent masculinization of the female fetus diagnosed as true hermaphrodism by chromosomal studies.
    J Pediatr. 1962 Apr;60:540-4 PMID: 14005365
  23. A patient suffering from Turner's syndrome and acromegaly.
    Acta Endocrinol (Copenh). 1962 Feb;39:204-12 PMID: 14007100
  24. [A recent case of "non-functioning ovaries"].
    Sem Hop. 1962 Oct 14;38:3208-10 PMID: 14033657
  25. GONADAL DYSGENESIS WITH XUXX MOSAICISM AND A POSITIVE SEX CHROMATIN PATTERN.
    J Clin Endocrinol Metab. 1963 Aug;23:752-8 PMID: 14065265
  26. THE PATHOLOGY AND CYTOGENETICS OF GONADAL AGENESIS.
    Am J Obstet Gynecol. 1963 Nov 1;87:578-600 PMID: 14074025
  27. THE XO SYNDROME. A STUDY OF THE DIFFERENTIATED PHENOTYPE IN 25 PATIENTS.
    J Pediatr. 1963 Oct;63:577-88 PMID: 14074416
  28. AN XY FEMALE WITH ABSENT GONADS AND VESTIGIAL PELVIC ORGANS.
    J Obstet Gynaecol Br Commonw. 1963 Aug;70:675-80 PMID: 14078046
  29. XO-XY CHROMOSOME MOSAICISM.
    J Clin Endocrinol Metab. 1963 Nov;23:1090-5 PMID: 14086769
  30. CHROMOSOME STUDIES ON TESTICULAR TISSUE CULTURES AND BLOOD LEUKOCYTES OF A MALE PREVIOUSLY REPORTED TO HAVE NO Y CHROMOSOME.
    N Engl J Med. 1964 Sep 17;271:586-92 PMID: 14172968
  31. Chromosome abnormalities in certain diseases of man.
    Ann Intern Med. 1960 Aug;53:359-71 PMID: 13822251
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.2.2.142
Published
1965-06-00
Pages
142-55
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1012851
Subset
OM
External Links
PubMed source DOI: 10.1136/jmg.2.2.142 PMC Full Text View journal details
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