Case Reports
doi: 10.1007/BF00441586.
Chromosome deletion and multiple cartilaginous exostoses
- PMID: 6965910
- DOI: 10.1007/BF00441586
Item in Clipboard
Case Reports
Chromosome deletion and multiple cartilaginous exostoses
Eur J Pediatr.
1980 Mar.
Abstract
We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases of the TRP II previously thought to have had normal chromosomes.
Similar articles
-
Basilar impression and syringomyelia in a patient with tricho-rhino-phalangeal syndrome type I.Clin Genet. 1993 Jun;43(6):324-5. doi: 10.1111/j.1399-0004.1993.tb03829.x. Clin Genet. 1993. PMID: 8370155 No abstract available.
-
Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies.Am J Dis Child. 1983 May;137(5):444-8. Am J Dis Child. 1983. PMID: 6601906
-
[Langer-Giedion syndrome and deletion in the long arm of chromosome 8].Genetika. 1987 May;23(5):907-12. Genetika. 1987. PMID: 3497842 Russian.
-
[Langer-Giedion syndrome(tricho-rhino-phalangeal syndrome, type II; TRPS II)].Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):203-4. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057196 Review. Japanese. No abstract available.
-
Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32).J Med Genet. 1994 Feb;31(2):156-8. doi: 10.1136/jmg.31.2.156. J Med Genet. 1994. PMID: 8182726 Free PMC article. Review.
Cited by
-
Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13).Hum Genet. 1983;64(1):90-3. doi: 10.1007/BF00289486. Hum Genet. 1983. PMID: 6336324
-
Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.Hum Genet. 1986 Oct;74(2):178-80. doi: 10.1007/BF00282087. Hum Genet. 1986. PMID: 2876948
-
Disorders caused by chromosome abnormalities.Appl Clin Genet. 2010 Dec 10;3:159-74. doi: 10.2147/TACG.S8884. Print 2010. Appl Clin Genet. 2010. PMID: 23776360 Free PMC article.
-
Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.Eur J Pediatr. 1990 Jun;149(9):618-20. doi: 10.1007/BF02034746. Eur J Pediatr. 1990. PMID: 2373110
-
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.Hum Genet. 1984;67(2):193-200. doi: 10.1007/BF00273000. Hum Genet. 1984. PMID: 6745939