Literature DB >> 738723

A case of trisomy 22 with a probable Robertsonian translocation 21/22.

S Lalchev, M Tzancheva, R Markova.   

Abstract

A 2-year-old girl with a prabable trisomy-22 translocation is described. The principal clinical symptoms described by the authors who have reported cases with proved trisomy 22 are presented. A probable 46,XX,-21,+t(21q;22q) karyotype was established in the patient. The proband's clinical picture is compared with other trisomy 22 cases described in the literature. The incidence of this trisomy among the human population is discussed.

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Year:  1978        PMID： 738723     DOI： 10.1007/bf00286967

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  16 in total

1.  A new contribution to the study of 22 trisomy.

Authors:  A Pérez-Castillo; J A Abrisqueta; M A Martin-Lucas; C Goday; J Del Mazo; V Aller
Journal:  Humangenetik       Date:  1975-09-20

2.  A PROBABLE G/G TRANSLOCATION TRISOMY.

Authors:  P L TOWNES; N A ZIEGLER
Journal:  J Pediatr       Date:  1964-09       Impact factor: 4.406

3.  A 22/22 translocation carrier with recurrent abortions demonstrated by a Giemsa banding technique,.

Authors:  T Maeda; M Ohno; N Shimada; M Nishida; T Jobo
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

4.  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

5.  Prenatal mortality of trisomy 21 (Down's syndrome).

Authors:  M R Creasy; J A Crolla
Journal:  Lancet       Date:  1974-03-23       Impact factor: 79.321

6.  Precise identification of various chromosomal abnormalities.

Authors:  K Hirschhorn; M Lucas; I Wallace
Journal:  Ann Hum Genet       Date:  1973-04       Impact factor: 1.670

7.  Three non-mongoloid patients of similar phenotype with an extra G-like chromosome.

Authors:  K H Gustavson; V Hitrec; B Santesson
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

8.  The question of trisomy 22 syndrome.

Authors:  R M Goodman; M B Katznelson; M Spero; R Shaki; B Padeh; N Sadan
Journal:  J Pediatr       Date:  1971-07       Impact factor: 4.406

9.  Letter: Confirmation of trisomy 22 with fluorescence banding.

Authors:  I A Uchida; E M Byrnes
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

10.  Trisomy 22. Two new cases and delineation of the phenotype.

Authors:  V B Penchaszadeh; R Coco
Journal:  J Med Genet       Date:  1975-06       Impact factor: 6.318
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  4 in total

1.  Hydrocephalus in an infant with trisomy 22.

Authors:  F Fahmi; S Schmerler; R G Hutcheon
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

2.  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

3.  Live-born trisomy 22: patient report and review.

Authors:  T Heinrich; I Nanda; M Rehn; U Zollner; E Frieauff; J Wirbelauer; T Grimm; M Schmid
Journal:  Mol Syndromol       Date:  2013-01-11

4.  Incomplete trisomy 22. III. Mosaic-trisomy 22 and the problem of full trisomy 22.

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

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