Literature DB >> 1583646

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.

R Tupler1, P Maraschio, A Gerardo, R Mainieri, G Lanzi, L Tiepolo.   

Abstract

An unbalanced complex chromosome rearrangement with 10 breakpoints resulting in four derivative chromosomes (1, 2, 4, and 11) was found in a girl with severe phenotypic abnormalities, many of which are characteristic of Williams syndrome. The patient was monosomic for the region 4q33----q35.1 and thus the mapping of the syndrome could tentatively be restricted to this region.

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Mesh：

Year:  1992        PMID： 1583646      PMCID： PMC1015926          DOI： 10.1136/jmg.29.4.253

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


  4 in total

1.  A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

Authors:  R D Jefferson; J Burn; K L Gaunt; S Hunter; E V Davison
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

2.  Complex chromosome rearrangements and congenital anomalies.

Authors:  B G Kousseff; P Nichols; Y P Essig; K Miller; A Weiss; T A Tedesco
Journal:  Am J Med Genet       Date:  1987-04

3.  The Williams syndrome: objective definition and diagnosis.

Authors:  M Preus
Journal:  Clin Genet       Date:  1984-05       Impact factor: 4.438

4.  High resolution R- and G-banding on the same preparation.

Authors:  B Dutrillaux; E Viegas-Pequignot
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  4 in total
  9 in total

1.  Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

Authors:  D Wieczorek; H Engels; R Viersbach; B Henke; G Schwanitz; E Passarge
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

2.  A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization.

Authors:  D A Batista; C M Tuck-Muller; J E Martinez; W G Kearns; P L Pearson; G Stetten
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132

3.  Brief report: four case histories and a literature review of Williams syndrome and autistic behavior.

Authors:  C Gillberg; P Rasmussen
Journal:  J Autism Dev Disord       Date:  1994-06

4.  A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome.

Authors:  C M Ogilvie; F L Raymond; R H Harrison; P N Scriven; Z Docherty
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

5.  Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.

Authors:  C A Joyce; B Zorich; S J Pike; J C Barber; N R Dennis
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

Review 6.  Characterizing complex structural variation in germline and somatic genomes.

Authors:  Aaron R Quinlan; Ira M Hall
Journal:  Trends Genet       Date:  2011-11-15       Impact factor: 11.639

Review 7.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Authors:  Martin Poot; Thomas Haaf
Journal:  Mol Syndromol       Date:  2015-08-15

8.  Genome-wide reconstruction of complex structural variants using read clouds.

Authors:  Noah Spies; Ziming Weng; Alex Bishara; Jennifer McDaniel; David Catoe; Justin M Zook; Marc Salit; Robert B West; Serafim Batzoglou; Arend Sidow
Journal:  Nat Methods       Date:  2017-07-17       Impact factor: 28.547

9.  Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Authors:  M De Gregori; R Ciccone; P Magini; T Pramparo; S Gimelli; J Messa; F Novara; A Vetro; E Rossi; P Maraschio; M C Bonaglia; C Anichini; G B Ferrero; M Silengo; E Fazzi; A Zatterale; R Fischetto; C Previderé; S Belli; A Turci; G Calabrese; F Bernardi; E Meneghelli; M Riegel; M Rocchi; S Guerneri; F Lalatta; L Zelante; C Romano; M Fichera; T Mattina; G Arrigo; M Zollino; S Giglio; F Lonardo; A Bonfante; A Ferlini; F Cifuentes; H Van Esch; L Backx; A Schinzel; J R Vermeesch; O Zuffardi
Journal:  J Med Genet       Date:  2007-08-31       Impact factor: 6.318
  9 in total

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