Literature DB >> 7643363

Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.

V P Prasher1, E Roberts, A Norman, A C Butler, V H Krishnan, D J McMullan.   

Abstract

A case of a 27 year old male with a duplication of part of the long arm of chromosome 22 (22q11.2-q13.1) together with a pericentric inversion of the same chromosome is reported. Particular phenotypic features of note include absence of speech, persistent self-injury, lack of daily living skills, colobomata, and very poor vision. Similarities between this case and other case reports of duplications of the long arm of chromosome 22 are discussed.

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Year:  1995        PMID： 7643363      PMCID： PMC1050382          DOI： 10.1136/jmg.32.4.306

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


  16 in total

1.  Full trisomy 22 in a newborn infant.

Authors:  M B Petersen; M Hansen; B W Djernes
Journal:  Ann Genet       Date:  1987

2.  A cytogenetic study directly from chorionic villi of 140 spontaneous abortions.

Authors:  B Eiben; S Borgmann; I Schübbe; I Hansmann
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132

Review 3.  Trisomy 22 confirmed by fluorescent in situ hybridization.

Authors:  R F Stratton; B R DuPont; V L Mattern; R S Young; J W McCourt; C M Moore
Journal:  Am J Med Genet       Date:  1993-04-01

4.  An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes.

Authors:  S E Bloom; C Goodpasture
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

5.  Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13).

Authors:  A Schinzel
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Anatomic and chromosomal anomalies in 639 spontaneous abortuses.

Authors:  T Kajii; A Ferrier; N Niikawa; H Takahara; K Ohama; S Avirachan
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  Trisomy 22 in a newborn with multiple malformations.

Authors:  I Voiculescu; E Back; A M Duncan; H Schwaibold; W Schempp
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

8.  The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Authors:  A Schinzel; W Schmid; M Fraccaro; L Tiepolo; O Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; R Tenconi; R A Pagon
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  Duplication of the segment q12.2 leads to qter of chromosome 22 due to paternal inversion 22(p13q12.2).

Authors:  A Fujimoto; M G Wilson; J W Towner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  The 22q distal trisomy syndrome in a recombinant child.

Authors:  H Rivera; L Garcia-Esquivel; M G Romo; G Perez-Garcia; R Martinez y Martinez
Journal:  Ann Genet       Date:  1988
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  4 in total

1.  Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.

Authors:  B Funke; L Edelmann; N McCain; R K Pandita; J Ferreira; S Merscher; M Zohouri; L Cannizzaro; A Shanske; B E Morrow
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

2.  Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.

Authors:  Regina E Ensenauer; Adewale Adeyinka; Heather C Flynn; Virginia V Michels; Noralane M Lindor; D Brian Dawson; Erik C Thorland; Cindy Pham Lorentz; Jennifer L Goldstein; Marie T McDonald; Wendy E Smith; Elba Simon-Fayard; Alan A Alexander; Anita S Kulharya; Rhett P Ketterling; Robin D Clark; Syed M Jalal
Journal:  Am J Hum Genet       Date:  2003-10-02       Impact factor: 11.025

3.  SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

Authors:  Chiara Magri; Eleonora Marchina; Valeria Bertini; Michele Traversa; Giulia Savio; Alba Pilotta; Giovanna Piovani
Journal:  BMC Med Genet       Date:  2015-07-07       Impact factor: 2.103

Review 4.  Developmentally regulated GTPases: structure, function and roles in disease.

Authors:  Christian A E Westrip; Qinqin Zhuang; Charlotte Hall; Charlotte D Eaton; Mathew L Coleman
Journal:  Cell Mol Life Sci       Date:  2021-10-19       Impact factor: 9.261
  4 in total

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