Literature DB >> 4054171

Report of a deletion 11 (qter----q23.3) and short review of the literature.

W Küster, H J Gebauer, F Majewski, H G Lenard.   

Abstract

A male child is described with short stature, mental retardation and unusual facial appearance. Cytogenetic analysis revealed a partial deletion of the long arm of chromosome 11: 46,XY,del (11)(qter----q23.3:). A short review of previously reported cases of del 11q is presented. A comparison of the main clinical characteristics and the extent of the 11q deletion is given.

Entities:  

Mesh：

Year:  1985        PMID： 4054171     DOI： 10.1007/BF00451964

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  8 in total

1.  Brief clinical report: deletion of the long arm of chromosome 11, [del(11)(q23)].

Authors:  P L Monteleone; S C Chen; S Nouri-Moghaddam; J D Blair; M Tietjens
Journal:  Am J Med Genet       Date:  1982-11

2.  11q-syndrome: review and report of two cases.

Authors:  E McPherson; L Meissner
Journal:  Birth Defects Orig Artic Ser       Date:  1982

3.  Report of the committee on the genetic constitution of chromosomes 10, 11, and 12. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping.

Authors:  P S Gerald; O J Miller
Journal:  Cytogenet Cell Genet       Date:  1982

4.  Further delineation of the C (trigonocephaly) syndrome.

Authors:  R M Antley; D S Hwang; W Theopold; R J Gorlin; T Steeper; D Pitt; D M Danks; E McPherson; H Bartels; H R Wiedemann; J M Opitz
Journal:  Am J Med Genet       Date:  1981

5.  Deletion of the long arm of chromosome 11 [46,XX,del(11)(q24.1--qter)].

Authors:  A E O'Hare; E Grace; A T Edmunds
Journal:  Clin Genet       Date:  1984-04       Impact factor: 4.438

6.  Brief clinical report: ring-11 chromosome: phenotype-karyotype correlation with deletions of 11q.

Authors:  A J Cousineau; J V Higgins; A B Scott-Emuakpor; G Mody
Journal:  Am J Med Genet       Date:  1983-01

7.  Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype.

Authors:  B M Lippe; R S Sparkes; B Fass; L Neidengard
Journal:  J Med Genet       Date:  1980-12       Impact factor: 6.318

8.  New anomalies found in the 11q-syndrome.

Authors:  L Sirota; F Shabtai; I Landman; I Halbrecht; F Dulitzky
Journal:  Clin Genet       Date:  1984-12       Impact factor: 4.438
  8 in total
  2 in total

Review 1.  Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Authors:  E K Pivnick; G V Velagaleti; R S Wilroy; M E Smith; S R Rose; R E Tipton; A T Tharapel
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

Review 2.  Jacobsen syndrome.

Authors:  Teresa Mattina; Concetta Simona Perrotta; Paul Grossfeld
Journal:  Orphanet J Rare Dis       Date:  2009-03-07       Impact factor: 4.123
  2 in total

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