Literature DB >> 3804338

Monosomy 21: a new case confirmed by in situ hybridization.

M C Pellissier, N Philip, M A Voelckel-Baeteman, M G Mattei, J F Mattei.   

Abstract

A new case of total monosomy 21 in a newborn is described. The diagnosis was first made using the cytogenetic data; it was then confirmed by the dosage of copper-superoxide dismutase (SOD-1) which showed a 50% decrease. In situ hybridization with a probe previously assigned to chromosome 21 was used to rule out the possibility of a partial monosomy with an unbalanced reciprocal translocation.

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Year:  1987        PMID： 3804338     DOI： 10.1007/bf00273852

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


  15 in total

1.  A male infant with monosomy 21.

Authors:  Y Kaneko; T Ikeuchi; M Sasaki; Y Stakae; S Kuwajima
Journal:  Humangenetik       Date:  1975-08-29

2.  Letter: Does full monosomy 21 exist? A comment to the paper: A male infant with monosomy 21 by Y. Kaneko, T. Ikeuchi, M. Sasaki, Y. Satake and S. Kuwajima Humangenetik 29, 1-7 (1975).

Authors:  A Schinzel
Journal:  Hum Genet       Date:  1976-04-15       Impact factor: 4.132

3.  A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-.

Authors:  J G Davis; E C Jenkins; H P Klinger; R G Weed
Journal:  Cytogenet Cell Genet       Date:  1976

4.  A female infant with monosomy 21.

Authors:  P Dziuba; D Dziekanowska; H Hübner
Journal:  Hum Genet       Date:  1976-03-12       Impact factor: 4.132

5.  A radioimmunoassay for copper containing superoxide dimutase.

Authors:  A Baret; P Michel; M R Imbert; J L Morcellet; A M Michelson
Journal:  Biochem Biophys Res Commun       Date:  1979-05-28       Impact factor: 3.575

6.  21 monosomy in a retarded female infant.

Authors:  K H Halloran; W R Breg; M J Mahoney
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

7.  An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques.

Authors:  B Dutrillaux; J Jonasson; K Laurèn; J Lejeune; J Lindsten; G B Petersen; P Saldaña-Garcia
Journal:  Ann Genet       Date:  1973-03

8.  An 18p21q translocation in a patient with presumptive "monosomy G".

Authors:  M M Cohen; T I Putnam
Journal:  Am J Dis Child       Date:  1972-12

9.  A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype.

Authors:  U Gripenberg; J Elfving; L Gripenberg
Journal:  J Med Genet       Date:  1972-03       Impact factor: 6.318

10.  Confirmation of the assignment of the human SODS gene to chromosome 21q22.

Authors:  T Philip; J Fraisse; P M Sinet; B Lauras; J M Robert; F Freycon
Journal:  Cytogenet Cell Genet       Date:  1978
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  9 in total

1.  Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

Authors:  R Oegema; A de Klein; A J Verkerk; R Schot; B Dumee; H Douben; B Eussen; L Dubbel; P J Poddighe; I van der Laar; W B Dobyns; P J van der Spek; M H Lequin; I F M de Coo; M-C Y de Wit; M W Wessels; G M S Mancini
Journal:  Mol Syndromol       Date:  2010-09-14

2.  Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).

Authors:  N M Smith; H Fernandez; H M Chambers; D F Callen
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

3.  Full monosomy 21: echocardiographic findings in the third molecularly confirmed case.

Authors:  D Fisher; A Dipietro; K A Murdison; C A Lemieux
Journal:  Pediatr Cardiol       Date:  2012-05-06       Impact factor: 1.655

4.  Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

Authors:  M C Phelan; C C Morton; R E Stevenson; R E Tanzi; G D Stewart; P C Watkins; J F Gusella; J A Amos
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

5.  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

6.  Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21.

Authors:  Jennifer M Katzenstein; John S Oghalai; Ross Tonini; Dian Baker; Jody Haymond; Susan E Caudle
Journal:  Neurocase       Date:  2009-01-26       Impact factor: 0.881

7.  No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.

Authors:  C Pangalos; D Théophile; P M Sinet; A Marks; D Stamboulieh-Abazis; Z Chettouh; M Prieur; C Verellen; M O Rethoré; J Lejeune
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

8.  Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature.

Authors:  Trent Burgess; Lilian Downie; Mark D Pertile; David Francis; Melissa Glass; Sara Nouri; Rosalynn Pszczola
Journal:  Case Rep Genet       Date:  2014-02-04

9.  Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.

Authors:  Cathrine Jespersgaard; Ida N Damgaard; Nanna Cornelius; Iben Bache; Niels Knabe; Maria J Miranda; Zeynep Tümer
Journal:  Mol Cytogenet       Date:  2016-02-04       Impact factor: 2.009
  9 in total

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