Literature DB >> 6431108

A case of partial monosomy 21q22.2 associated with Rieger's syndrome.

F Nielsen, L Trånebjaerg.   

Abstract

A deleted chromosome 21 is reported in a mentally retarded girl with prominent occiput, high nasal bridge, downward slanting eyes, enophthalmus, atresia of the right lacrimal duct, displaced anal opening, and supernumerary ribs. Cytogenetic investigation of cultured lymphocytes and skin fibroblasts revealed a deletion of the long arm of chromosome 21 at sub-band q22.2 with satellites on both arms. Normal SOD-1 activity confirmed the breakpoint to be distal to band q22.1.

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Year:  1984        PMID： 6431108      PMCID： PMC1049271          DOI： 10.1136/jmg.21.3.218

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


  14 in total

1.  A male infant with monosomy 21.

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Journal:  Humangenetik       Date:  1975-08-29

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Authors:  J LEJEUNE; R BERGER; M O RETHORE; L ARCHAMBAULT; H JEROME; S THIEFFRY; J AICARDI; M BROYER; J LAFOURCADE; J CRUVEILLER; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1964-11-30

3.  Down syndrome due to partial trisomy 21q.

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Journal:  Clin Genet       Date:  1977-02       Impact factor: 4.438

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Authors:  K F Tabbara; F P Khouri
Journal:  Can J Ophthalmol       Date:  1973-07       Impact factor: 1.882

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Authors:  D Abeliovich; R Carmi; M Karplus; J Bar-Ziv; M M Cohen
Journal:  Am J Med Genet       Date:  1979

6.  Karyotype 45,XX,-21/46,XX,21q-in an infant with symptoms of G-deletion syndrome I.

Authors:  M Mikkelsen; S Vestermark
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

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Authors:  A B Reese; R M Ellsworth
Journal:  Arch Ophthalmol       Date:  1966-03

8.  [Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1].

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Journal:  Exp Cell Res       Date:  1976-01       Impact factor: 3.905

9.  Rieger's syndrome with pericentric inversion of chromosome 6.

Authors:  M H Heinemann; R Breg; E Cotlier
Journal:  Br J Ophthalmol       Date:  1979-01       Impact factor: 4.638

10.  A case of 21q--syndrome with normal SOD-1 activity.

Authors:  Y Yamamoto; N Ogasawara; A Gotoh; H Komiya; H Nakai; Y Kuroki
Journal:  Hum Genet       Date:  1979-05-10       Impact factor: 4.132
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  9 in total

1.  Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

Authors:  Robert Lyle; Frédérique Béna; Sarantis Gagos; Corinne Gehrig; Gipsy Lopez; Albert Schinzel; James Lespinasse; Armand Bottani; Sophie Dahoun; Laurence Taine; Martine Doco-Fenzy; Pascale Cornillet-Lefèbvre; Anna Pelet; Stanislas Lyonnet; Annick Toutain; Laurence Colleaux; Jürgen Horst; Ingo Kennerknecht; Nobuaki Wakamatsu; Maria Descartes; Judy C Franklin; Lina Florentin-Arar; Sophia Kitsiou; Emilie Aït Yahya-Graison; Maher Costantine; Pierre-Marie Sinet; Jean M Delabar; Stylianos E Antonarakis
Journal:  Eur J Hum Genet       Date:  2008-11-12       Impact factor: 4.246

2.  Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly.

Authors:  T Jordan; N Ebenezer; R Manners; J McGill; S Bhattacharya
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

3.  Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.

Authors:  A J Mears; F Mirzayans; D B Gould; W G Pearce; M A Walter
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

4.  Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Authors:  Z Chettouh; M F Croquette; B Delobel; S Gilgenkrants; C Leonard; C Maunoury; M Prieur; M O Rethoré; P M Sinet; M Chery
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

5.  Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice.

Authors:  Tao Yu; Steven J Clapcote; Zhongyou Li; Chunhong Liu; Annie Pao; Allison R Bechard; Sandra Carattini-Rivera; Sei-Ichi Matsui; John C Roder; Antonio Baldini; William C Mobley; Allan Bradley; Y Eugene Yu
Journal:  Mamm Genome       Date:  2010-05-29       Impact factor: 2.957

6.  Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.

Authors:  M J McGinniss; H H Kazazian; G Stetten; M B Petersen; H Boman; E Engel; F Greenberg; J M Hertz; A Johnson; Z Laca
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

7.  Genetic heterogeneity in Rieger eye malformation.

Authors:  E Legius; C E de Die-Smulders; F Verbraak; H Habex; R Decorte; P Marynen; J P Fryns; J J Cassiman
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

Review 8.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367

9.  Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods

Authors:  Sadaf Omori Sarabi; Javad Karimzad Hagh; Claudia Behrend; Seyed Behrooz Mohseni; Mitra Ansari Dezfouli; Seyed Khalil Rashidi; Mir Davood Omrani
Journal:  Iran Biomed J       Date:  2019-07-14
  9 in total

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