Literature DB >> 7365766

Complex chromosomal rearrangement leading to partial trisomy 22.

I L Hansteen, L Schirmer, S Hestetun, A Brøgger.   

Abstract

We have examined a boy with a peculiar facial appearance and mental retardation. Cytogenetic studies showed 47,XY, monosomy 22, two marker chromosomes, M1 and M2. The karotype is interpreted as functionally partial trisomy 22. Chromosome analyses of both parents and three sibs were normal.

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Year:  1980        PMID： 7365766      PMCID： PMC1048494          DOI： 10.1136/jmg.17.1.66

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


  7 in total

1.  Trisomy 22: a clinically identifiable syndrome.

Authors:  O S Alfi; R G Sanger; G M Donnell
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.

Authors:  B S Emanuel; E H Zackai; M M Aronson; W J Mellman; P S Moorhead
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

3.  Partial trisomy 22: a recognizable syndrome.

Authors:  P Garlinger; S A McGeary; E Magenis
Journal:  Clin Genet       Date:  1977-07       Impact factor: 4.438

4.  Cat eye syndrome. Partial trisomy 22 due to translocation in the mother.

Authors:  M K Bofinger; S W Soukup
Journal:  Am J Dis Child       Date:  1977-08

5.  Monosomy of chromosome No. 22. A case report.

Authors:  F DeCicco; M W Steele; S Pan; S C Park
Journal:  J Pediatr       Date:  1973-11       Impact factor: 4.406

6.  C-bands in seven cases of accessory small chromosomes.

Authors:  D Soudek; H Sroka
Journal:  Clin Genet       Date:  1977-11       Impact factor: 4.438

7.  The problem of trisomy 22. A case report and a discussion of the variant forms.

Authors:  H Zellweger; V Ionasescu; J Simpson; L Burmeister
Journal:  Clin Pediatr (Phila)       Date:  1976-07       Impact factor: 1.168
  7 in total
  1 in total

1.  Complex chromosome rearrangement with ankyloblepharon filiforme adnatum.

Authors:  B G Kousseff; P Papenhausen; Y P Essig; M P Torres
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318
  1 in total

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