Literature DB >> 891009

Partial trisomy 22: a recognizable syndrome.

P Garlinger, S A McGeary, E Magenis.   

Abstract

A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including mental retardation, congenital heart disease, skeletal anomalies, anti-mongoloid slant of the palpebral fissures, preauricular skin tags and low-set ears.

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Year:  1977        PMID： 891009     DOI： 10.1111/j.1399-0004.1977.tb00895.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  10 in total

Review 1.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

2.  Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11), inherited in three generations.

Authors:  H Nakai; Y Yamamoto; Y Kuroki
Journal:  Hum Genet       Date:  1979-10-02       Impact factor: 4.132

3.  Complex chromosomal rearrangement leading to partial trisomy 22.

Authors:  I L Hansteen; L Schirmer; S Hestetun; A Brøgger
Journal:  J Med Genet       Date:  1980-02       Impact factor: 6.318

4.  Partial trisomies 13 and 22 due to nondisjunction of a maternal reciprocal translocation, t(13;22)(q22;q11).

Authors:  O Mutchinick; L Ruz; R Jiménez
Journal:  Hum Genet       Date:  1978-11-24       Impact factor: 4.132

5.  The problem of partial trisomy 22 reconsidered.

Authors:  G M Feldman; R S Sparkes
Journal:  Hum Genet       Date:  1978-11-24       Impact factor: 4.132

6.  Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families.

Authors:  A Schinzel; W Schmid; P Auf der Maur; H Moser; K H Degenhardt; M Geisler; A Grubisic
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  A 13-year-old girl with karyotype 47, XX, +i (22) (qll).

Authors:  A Smith; I S Fraser; R P Shearman
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318

8.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

9.  The aetiology of the cat eye syndrome reconsidered.

Authors:  G Guanti
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

10.  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
  10 in total

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