Literature DB >> 2446809

Free proximal trisomy 21 without the Down syndrome.

J P Park1, D H Wurster-Hill, P A Andrews, W C Cooley, J M Graham.   

Abstract

Analysis of partial duplication of chromosome 21 suggests that band 21q22 contains determinants for the Down syndrome. We report two cases of free proximal trisomy 21 without manifestations of the Down syndrome. Phenotypic anomalies included marked microcephaly, short stature, hypoplastic nails, and mental retardation/developmental delay. Our cases are consistent with the assignment of band 21q22 as the causal duplicated segment in the Down syndrome.

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Year:  1987        PMID： 2446809     DOI： 10.1111/j.1399-0004.1987.tb03299.x

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


  10 in total

1.  Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

Authors:  Z Rahmani; J L Blouin; N Creau-Goldberg; P C Watkins; J F Mattei; M Poissonnier; M Prieur; Z Chettouh; A Nicole; A Aurias
Journal:  Proc Natl Acad Sci U S A       Date:  1989-08       Impact factor: 11.205

2.  Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.

Authors:  T Mattina; M Pierluigi; D Mazzone; S Scardilli; C Perfumo; F Mollica
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

3.  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

4.  Down syndrome phenotypes: the consequences of chromosomal imbalance.

Authors:  J R Korenberg; X N Chen; R Schipper; Z Sun; R Gonsky; S Gerwehr; N Carpenter; C Daumer; P Dignan; C Disteche
Journal:  Proc Natl Acad Sci U S A       Date:  1994-05-24       Impact factor: 11.205

5.  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

6.  Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.

Authors:  J R Korenberg; C Bradley; C M Disteche
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

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.  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

9.  Prenatal Diagnosis and Genetic Analysis of 21q21.1-q21.2 Aberrations in Seven Chinese Pedigrees.

Authors:  Huamei Hu; Rong Zhang; Yongyi Ma; Yanmei Luo; Yan Pan; Juchun Xu; Lupin Jiang; Dan Wang
Journal:  Front Genet       Date:  2021-12-21       Impact factor: 4.599

10.  Inter-Dependent Mechanisms Behind Cognitive Dysfunction, Vascular Biology and Alzheimer's Dementia in Down Syndrome: Multi-Faceted Roles of APP.

Authors:  Dean Nizetic; Christopher L Chen; Wanjin Hong; Edward H Koo
Journal:  Front Behav Neurosci       Date:  2015-12-01       Impact factor: 3.558
  10 in total

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