Case Reports
Chromosome 11 long arm partial deletion: a new syndrome
- PMID: 1247044
Item in Clipboard
Case Reports
Chromosome 11 long arm partial deletion: a new syndrome
Am J Ment Defic.
1976 Jan.
Abstract
Deletion of the distal end of the long arm of a chromosome 11 (11q-) was demonstrated by G-bands in a malformed 4.3-year-old girl. Comparison of her phenotype with those of the four previously reported cases of 11q-, three with a proven and one a presumed similar deletion, suggests that this defect results in a clinical picture most noticeable for the association of variable mental retardation, marked speech deficit, trigonocephaly, and pronounced growth failure.
Similar articles
-
[Interstitial deletion of the long arm of one 11 chromosome].Ann Genet. 1975 Mar;18(1):61-3. Ann Genet. 1975. PMID: 1080039 French.
-
Deletion of 11q: report of two cases and a review.Birth Defects Orig Artic Ser. 1976;12(5):125-30. Birth Defects Orig Artic Ser. 1976. PMID: 953212
-
46, Del (9) (22:), a new deletion syndrome.Birth Defects Orig Artic Ser. 1974;10(8):27-34. Birth Defects Orig Artic Ser. 1974. PMID: 4458825 No abstract available.
-
Deletions of the long arm of chromosome 6: two new cases and review of the literature.Am J Med Genet. 1985 Jan;20(1):21-9. doi: 10.1002/ajmg.1320200105. Am J Med Genet. 1985. PMID: 3881954 Review.
-
Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.Am J Med Genet. 1990 Feb;35(2):269-73. doi: 10.1002/ajmg.1320350225. Am J Med Genet. 1990. PMID: 2178418 Review.
Cited by
-
The 11q-- syndrome: another case report.Hum Genet. 1977 Apr 15;36(2):239-42. doi: 10.1007/BF00273264. Hum Genet. 1977. PMID: 870416
-
A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9.Hum Genet. 1977 Apr 7;36(1):117-22. doi: 10.1007/BF00390443. Hum Genet. 1977. PMID: 858620
-
Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.J Med Genet. 1977 Dec;14(6):438-44. doi: 10.1136/jmg.14.6.438. J Med Genet. 1977. PMID: 604495 Free PMC article.
-
The 11q -- syndrome.Hum Genet. 1977 Feb 11;35(2):241-6. doi: 10.1007/BF00393977. Hum Genet. 1977. PMID: 844873
-
Partial deletion of the long arm chromosome 11 in Jacobsen syndrome.Indian J Pediatr. 1986 Jan-Feb;53(1):123-6. doi: 10.1007/BF02787084. Indian J Pediatr. 1986. PMID: 3759192 No abstract available.