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PMID: 6984841 Published · ppublish English Case Reports Journal Article

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

Human genetics ·Vol. 62 ·No. 3 ·1982-00-00 ·Pages 183-7

Turleau C, Chavin-Colin F, de Grouchy J, Maroteaux P, Rivera H

Abstract

暂无摘要

MeSH Terms
Abnormalities, Multiple/genetics Adolescent Child Chromosome Banding Chromosome Deletion Chromosomes, Human, 6-12 and X Exostoses, Multiple Hereditary/congenital,genetics Humans Karyotyping Male Syndrome
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Turleau C
Chavin-Colin F
de Grouchy J
Maroteaux P
Rivera H
References (15)
15 references, click to expand
  1. The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II).
    Eur J Pediatr. 1979 Sep;132(1):55-9 PMID: 91515
  2. Familial tricho-rhino-phalangeal syndrome Type II.
    Clin Genet. 1981 Mar;19(3):149-55 PMID: 6974063
  3. Langer-Giedion syndrome with interstitial 8q-deletion.
    Am J Med Genet. 1982 Mar;11(3):353-8 PMID: 7081298
  4. [Tricho-rhino-phalangeal syndrome].
    Helv Paediatr Acta. 1966 Nov;21(5):475-85 PMID: 5991804
  5. Langer-Giedion syndrome.
    Birth Defects Orig Artic Ser. 1974;10 (12 ):147-64 PMID: 4549298
  6. Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).
    Clin Genet. 1980 Aug;18(2):142-6 PMID: 6254701
  7. Langer-Giedion syndrome and deletion of the long arm of chromosome 8.
    Hum Genet. 1981;58(2):231-2 PMID: 6974680
  8. Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia.
    J Pediatr. 1977 Aug;91(2):277-80 PMID: 301559
  9. Chromosome deletion and multiple cartilaginous exostoses.
    Eur J Pediatr. 1980 Mar;133(2):163-6 PMID: 6965910
  10. [Peripheral dysostosis (PD)--a collective concept].
    Fortschr Geb Rontgenstr Nuklearmed. 1969 Apr;110(4):507-24 PMID: 5307918
  11. Presumptive long arm deletion of chromosome 8: a new syndrome?
    Hum Genet. 1979 Sep 2;51(1):49-53 PMID: 500091
  12. Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213).
    Hum Genet. 1977 Sep 22;38(2):125-30 PMID: 908558
  13. Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21).
    Hum Genet. 1979 Apr 17;48(1):127-30 PMID: 457127
  14. Tricho-rhino-phalangeal syndrome.
    Am J Dis Child. 1969 Oct;118(4):595-9 PMID: 5820605
  15. Small structural changes of chromosome 8. Two cases with evidence for deletion.
    Hum Genet. 1977 Aug 31;38(1):113-21 PMID: 903151
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00333515
Published
1982-00-00
Pages
183-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00333515 View journal details
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