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PMID: 5713650 Published · ppublish English Case Reports Journal Article

An extra small metacentric chromosome in a mentally retarded boy.

Journal of medical genetics ·Vol. 5 ·No. 4 ·1968-12-00 ·Pages 335-40

Ishmael J, Laurence KM

Abstract

暂无摘要

MeSH Terms
Abnormalities, Multiple/genetics Child Chromosome Aberrations Chromosome Disorders Chromosomes, Human, 16-18 Dermatoglyphics Humans Intellectual Disability/genetics Karyotyping Male Pedigree Sex Chromatin Trisomy
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Ishmael J
Laurence K M
References (43)
43 references, click to expand
  1. PHOCOMELIA AND TRISOMY E.
    Acta Genet Med Gemellol (Roma). 1965 Apr;14:164-73 PMID: 14348156
  2. A familial centric chromosome fragment.
    Cytogenetics. 1965;4(4):219-26 PMID: 5864051
  3. CLINICAL TRISOMY E SYNDROME (16-18): A CYTOGENETIC ENIGMA.
    Clin Pediatr (Phila). 1964 Apr;3:233-5 PMID: 14142746
  4. Multiple congenital anomaly associated with an extra autosome.
    Lancet. 1961 Jul 1;2(7192):22-4 PMID: 13696337
  5. THE TRISOMY 18 SYNDROME.
    Am J Roentgenol Radium Ther Nucl Med. 1964 Mar;91:618-28 PMID: 14123486
  6. Trisomy-17 syndrome. Report of three cases and review of the literature.
    Am J Med. 1962 Nov;33:763-73 PMID: 13949494
  7. TRISOMY 17-18(E): STUDIES IN LONG-TERM SURVIVAL WITH REPORT OF TWO AUTOPSIED CASES.
    Pediatrics. 1964 Oct;34:533-41 PMID: 14218053
  8. The 18-trisomy syndrome-a spectrum?
    Clin Pediatr (Phila). 1963 Jan;2:25-32 PMID: 13953458
  9. A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome.
    J Pediatr. 1960 Sep;57:338-45 PMID: 13831938
  10. The 16-18 trisomy syndrome.
    Am J Dis Child. 1963 Feb;105:213-5 PMID: 13983723
  11. The sites and relative frequencies of secondary constrictions in human somatic chromosomes.
    Cytogenetics. 1962;1:325-43 PMID: 13944753
  12. The 18-trisomy syndrome.
    N Engl J Med. 1962 Jun 7;266:1198-201 PMID: 13923409
  13. THE 17-18 TRISOMY AND 21 TRISOMY SYNDROMES IN SIBLINGS.
    J Pediatr. 1964 Apr;64:601-4 PMID: 14144760
  14. A new trisomic syndrome.
    Lancet. 1960 Apr 9;1(7128):787-90 PMID: 13819419
  15. 17-18 TRISOMY SYNDROME; REVIEW AND REPORT OF A CASE.
    Am J Dis Child. 1963 Dec;106:591-6 PMID: 14063710
  16. A CASE OF TRISOMY 16-18 SYNDROME. SPECULATION ON PATHOGENESIS OF CHROMOSOME-INDUCED MALFORMATIONS.
    Am J Dis Child. 1964 Mar;107:300-3 PMID: 14095120
  17. THE NO. 17-18 (E) TRISOMY SYNDROME. STUDIES ON CYTOGENETICS, DERMATOGLYPHICS, PATERNAL AGE, AND LINKAGE.
    J Pediatr. 1963 Oct;63:605-21 PMID: 14074419
  18. Trisomy 17-18. The clinical scope of a chromosomal aberration.
    Md State Med J. 1966 Jun;15(6):48-55 PMID: 5327487
  19. TRISOMY 17-18--AN EVALUATION OF PRECONCEPTIONAL PARENTAL IRRADIATION AS A POSSIBLE ETIOLOGIC FACTOR.
    J Pediatr. 1964 Dec;65:870-9 PMID: 14244094
  20. Trisomy of chromosomes 13-15 and 17-18: its association with infantile arteriosclerosis.
    Am J Med Sci. 1962 Dec;244:763-79 PMID: 13974938
  21. DIVERSE CHROMOSOMAL ANOMALIES IN TWO SIBLINGS.
    Acta Paediatr. 1964 Jul;53:371-6 PMID: 14181114
  22. An extra small metacentric chromosome in a female child.
    J Med Genet. 1966 Dec;3(4):295-7 PMID: 16178091
  23. Chromosome preparations of leukocytes cultured from human peripheral blood.
    Exp Cell Res. 1960 Sep;20:613-6 PMID: 13772379
  24. [On the subject of chromsome pathology. Anatomo-clinical and caryological contribution to the study of trisomy 17-18].
    Clin Pediatr (Bologna). 1965 Oct;47(10):759-800 PMID: 5887099
  25. [Trisomy 18].
    Lille Med. 1966 Jun-Jul;11(6):690-8 PMID: 5942186
  26. AUTOSOMAL TRISOMY SYNDROMES, EXCLUDING DOWN'S.
    Guys Hosp Rep. 1964;113:231-49 PMID: 14225129
  27. THE PATHOLOGY OF 18 TRISOMY.
    J Pediatr. 1964 Jul;65:92-101 PMID: 14178832
  28. E (16-18) trisomy syndrome: analysis of 13 cases.
    Arch Dis Child. 1965 Dec;40(214):600-11 PMID: 5844950
  29. The E syndrome (trisomy 17-18) resulting from a maternal chromosomal translocation.
    Can Med Assoc J. 1962 Sep 8;87:559-61 PMID: 13873308
  30. The relationship between congenital anomalies and autosomal chromosome abnormalities.
    Yale J Biol Med. 1962 Oct;35:189-205 PMID: 14034129
  31. Trisomy 18 (16-18) associated with congenital glaucoma and optic atrophy.
    J Pediatr. 1962 Nov;61:755-8 PMID: 13993887
  32. Observations on the pathology of the trisomy 17-18 syndrome.
    J Pediatr. 1963 May;62:703-9 PMID: 13993886
  33. Pathologic variations of the 17-18 trisomy.
    Med Ann Dist Columbia. 1966 Apr;35(4):195-200 passim PMID: 5218021
  34. MENTAL RETARDATION AND MULTPLE CONGENITAL ANOMALIES: ASSOCIATION WITH EXTRA SMALL METACENTRIC CHROMOSOME.
    Am J Dis Child. 1965 Jun;109:554-7 PMID: 14299403
  35. TRISOMY 18 IN A HYDROCEPHALIC FETUS.
    J Pediatr. 1964 Jul;65:67-70 PMID: 14178828
  36. The 18-trisomy syndrome-two new clinical variants. One with associated tracheoesophageal fistula and the other with probable familial occurrence.
    N Engl J Med. 1963 May 2;268:982-8 PMID: 13961397
  37. [Trisomy 18: study of 2 cases].
    Acta Paediatr Belg. 1967;21(1):71-90 PMID: 6044263
  38. MULTIPLE CONGENITAL ANOMALIES IN THE E1-TRISOMY (GROUP 16-18) SYNDROME.
    Pediatrics. 1964 Feb;33:258-70 PMID: 14117382
  39. Congenital asymmetry associated with trisomy 18 mosaicism.
    Am J Dis Child. 1965 Nov;110(5):551-5 PMID: 5846693
  40. TRISOMY 18. REPORT OF A CASE AND DISCUSSION OF THE SYNDROME.
    Arch Intern Med. 1964 Apr;113:598-605 PMID: 14109021
  41. [TRISOMY 17-18. DESCRIPTION OF A CASE AND REVIEW OF THE LITERATURE].
    Minerva Pediatr. 1965 Mar 17;17:481-92 PMID: 14312728
  42. TRISOMY 18 SYNDROME WITH ABSENT RADIUS, VARUS DEFORMITY OF HAND, AND RUDIMENTARY THUMB: REPORT OF A CASE.
    J Pediatr. 1964 Jul;65:130-3 PMID: 14178817
  43. [THE TRISOMY-18 SYNDROME. REPORT ON 3 CASES].
    Schweiz Med Wochenschr. 1965 Apr 17;95:509-16 PMID: 14308573
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
Published
1968-12-00
Pages
335-40
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1468659
Subset
IM
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