Literature DB >> 157396

Normal phenotype and partial trisomy for the G positive region of chromosome 21.

A Daniel.   

Abstract

A prenatally diagnosed male fetus and his mother, who was referred because of her advanced age, both carried an abnormal bisatellited chromosome 21 as an extra chromosome. The abnormal 21 was monocentric and the G negative band q22 and part of q21 had been deleted during formation. The phenotype of both the mother and child (at birth) was normal.

Entities:  

Mesh：

Year:  1979        PMID： 157396      PMCID： PMC1012698          DOI： 10.1136/jmg.16.3.227

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


  7 in total

1.  A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism).

Authors:  J WARKANY; S W SOUKUP
Journal:  J Pediatr       Date:  1963-06       Impact factor: 4.406

2.  Structure and inheritance of some heterozygous Robertsonian translocation in man.

Authors:  A Daniel; P R Lam-Po-Tang
Journal:  J Med Genet       Date:  1976-10       Impact factor: 6.318

3.  Down syndrome due to partial trisomy 21q.

Authors:  J Cervenka; R J Gorlin; G R Djavadi
Journal:  Clin Genet       Date:  1977-02       Impact factor: 4.438

4.  Partial trisomy 21.

Authors:  P Aula; J Leisti; H von Koskull
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

5.  Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.

Authors:  E Niebuhr
Journal:  Humangenetik       Date:  1974-01-22

6.  Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.

Authors:  J D Williams; R L Summitt; P R Martens; R A Kimbrell
Journal:  Am J Hum Genet       Date:  1975-07       Impact factor: 11.025

7.  Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype.

Authors:  A Hagemeijer; E M Smit
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132
  7 in total
  10 in total

1.  Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion.

Authors:  J R Korenberg; D K Kalousek; G Anneren; S M Pulst; J G Hall; C J Epstein; D R Cox
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

2.  The genetic significance of accessory bisatellited marker chromosomes.

Authors:  P Steinbach; M Djalali; I Hansmann; E Kattner; M Meisel-Stosiek; H D Probeck; A Schmidt; M Wolf
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  Trisomy 21 for the region 21q223: identification by high-resolution R-banding patterns.

Authors:  J F Mattei; M G Mattei; M A Baeteman; F Giraud
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

Authors:  J R Korenberg; H Kawashima; S M Pulst; T Ikeuchi; N Ogasawara; K Yamamoto; S A Schonberg; R West; L Allen; E Magenis
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

Review 5.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

6.  Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.

Authors:  Joanna Pietrzak; Kristin Mrasek; Ewa Obersztyn; Pawel Stankiewicz; Nadezda Kosyakova; Anja Weise; Sau Wai Cheung; Wei Wen Cai; Ferdinand von Eggeling; Tadeusz Mazurczak; Ewa Bocian; Thomas Liehr
Journal:  J Appl Genet       Date:  2007       Impact factor: 3.240

Review 7.  Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18.

Authors:  R Mewar; A D Kline; W Harrison; K Rojas; F Greenberg; J Overhauser
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

8.  The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.

Authors:  M Münke; J P Kraus; T Ohura; U Francke
Journal:  Am J Hum Genet       Date:  1988-04       Impact factor: 11.025

9.  Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.

Authors:  Maria Chiara Pelleri; Elena Cicchini; Chiara Locatelli; Lorenza Vitale; Maria Caracausi; Allison Piovesan; Alessandro Rocca; Giulia Poletti; Marco Seri; Pierluigi Strippoli; Guido Cocchi
Journal:  Hum Mol Genet       Date:  2016-04-22       Impact factor: 6.150

10.  Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms.

Authors:  Francesca Antonaros; Margherita Pitocco; Domenico Abete; Beatrice Vione; Allison Piovesan; Lorenza Vitale; Pierluigi Strippoli; Maria Caracausi; Maria Chiara Pelleri
Journal:  Front Genet       Date:  2021-12-08       Impact factor: 4.599
  10 in total

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