Literature DB >> 844873

The 11q -- syndrome.

J Frank, V M Riccardi.   

Abstract

An eighth case of terminal deletion of the long arm of chromosome eleven (11q--) is reported to emphasize both the distinctive facies, but otherwise non-specific nature of this disorder, and the female preponderance of affected patients. Growth and mental retardation, congenital heart disease and telecanthus are the other most constant features. The authors' experience with 3 unrelated cases in less than 2 years suggests that this syndrome is underdiagnosed.

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Year:  1977        PMID: 844873     DOI: 10.1007/BF00393977

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  6 in total

1.  Anomalies associated with partial deletion of long arm of chromosome 11.

Authors:  L G Linarelli; K G Pai; S F Pan; H M Rubin
Journal:  J Pediatr       Date:  1975-05       Impact factor: 4.406

2.  Chromosome 11 long arm partial deletion: a new syndrome.

Authors:  E Engel; C S Hirshberg; S B Cassidy; B J McGee
Journal:  Am J Ment Defic       Date:  1976-01

3.  Deletion of 11q: report of two cases and a review.

Authors:  S A Larson; G W Yeatman; V M Riccardi
Journal:  Birth Defects Orig Artic Ser       Date:  1976

4.  Duplication 11 (q21 to 23 leads to qter) syndrome.

Authors:  U Francke; F Weber; R S Sparkes; P D Mattson; J Mann
Journal:  Birth Defects Orig Artic Ser       Date:  1977

5.  An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.

Authors:  P Jacobsen; M Hauge; K Henningsen; N Hobolth; M Mikkelsen; J Philip
Journal:  Hum Hered       Date:  1973       Impact factor: 0.444

6.  A case with 46, XX, del (11) (q21).

Authors:  J Faust; W Vogel; B Löning
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

  6 in total
  8 in total

1.  Congenital ocular and other systemic abnormalities associated with ring-11 chromosome.

Authors:  S Daniele; F Pecorelli; L Tiepolo; R Armellini; F S Liotti
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1986       Impact factor: 3.117

2.  Partial deletion of the long arm chromosome 11 in Jacobsen syndrome.

Authors:  K S Reddy; I M Thomas; H S Narayanan
Journal:  Indian J Pediatr       Date:  1986 Jan-Feb       Impact factor: 1.967

Review 3.  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

4.  Partial deletion of the long arm of chromosome 11 the Jacobsen syndrome.

Authors:  K S Reddy; I M Thomas; H S Narayanan
Journal:  Indian J Pediatr       Date:  1984 May-Jun       Impact factor: 1.967

Review 5.  Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome.

Authors:  J O Van Hemel; B Eussen; E Wesby-van Swaay; B A Oostra
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

6.  11q aneuploidy: partial monosomy and trisomy in the children of a mother with a t(3;11)(p27;q23) translocation.

Authors:  M A Ridler; J A McKeown
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132

7.  Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.

Authors:  A Schinzel; P Auf der Maur; H Moser
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318

8.  De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.

Authors:  Ying Peng; Ruiyu Ma; Yingjie Zhou; Yan Xia; Juan Wen; Yanghui Zhang; Ruolan Guo; Haoxian Li; Qian Pan; Rui Zhang; Chengyuan Tang; Desheng Liang; Lingqian Wu
Journal:  Mol Cytogenet       Date:  2015-11-09       Impact factor: 2.009

  8 in total

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