Literature DB >> 7205433

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

B M Lippe, R S Sparkes, B Fass, L Neidengard.   

Abstract

A patient with a partial deletion (q23 leads to qter) of the long arm of chromosome 11 presented with craniosynostosis and syndactyly. These characteristics, which have not been previously reported with 11q--, expand the phenotype of this syndrome and emphasise the need for chromosome analysis with banding techniques in multiple congenital anomaly syndromes, even if the patient could be classified as having a non-chromosomal syndrome.

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Year:  1980        PMID： 7205433      PMCID： PMC1885929          DOI： 10.1136/jmg.17.6.480

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  [Interstitial deletion of the long arm of one 11 chromosome].

Authors:  J L Taillemite; B G Morlier; C Roux
Journal:  Ann Genet       Date:  1975-03

2.  Trigonocephaly and the 11q- syndrome.

Authors:  S B Cassidy; R M Heller; A W Kilroy; W McKelvey; E Engel
Journal:  Ann Genet       Date:  1977-03

3.  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

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

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

5.  Acrocephalosyndactylia associated with a chromosomal translocation. 46,XX, t (2p-; Cq+).

Authors:  W E Dodson; M Museles; J L Kennedy; M al-Aish
Journal:  Am J Dis Child       Date:  1970-10

6.  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
  6 in total
  3 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

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

Authors:  W Küster; H J Gebauer; F Majewski; H G Lenard
Journal:  Eur J Pediatr       Date:  1985-09       Impact factor: 3.183

3.  Trisomy 3p23----pter and monosomy 11q23----qter in an infant with two translocation carrier parents.

Authors:  R L Neu; B G Kousseff; D E Hardy; Y P Essig; K L Miller; G A Jervis; T A Tedesco
Journal:  J Med Genet       Date:  1988-09       Impact factor: 6.318
  3 in total

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