Literature DB >> 136225

[Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)].

O Raoul, S Carpentier, B Dutrillaux, R Mallet, J Lejeune.   

Abstract

A balanced reciprocal translocation, t(15;21) (q262;q21) was observed in the mother and maternal grandfather of two patients. The propositus, who received the abnormal chromosome 15 from his mother, is trisomic for the distal part of chromosome 21, and his phenotype is that of classical trisomy 21. His sister, who is trisomic for the proximal part of 21q, is slightly retarded but developmentally normal otherwise.

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Mesh:

Year:  1976        PMID: 136225

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  16 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.  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

3.  Down syndrome and microRNAs.

Authors:  Aldina Brás; António S Rodrigues; Bruno Gomes; José Rueff
Journal:  Biomed Rep       Date:  2017-11-17

Review 4.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

5.  Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.

Authors:  M C Pellissier; M Laffage; N Philip; E Passage; M G Mattei; J F Mattei
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

6.  Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations.

Authors:  N Philip; M A Baeteman; M G Mattei; J F Mattei
Journal:  Eur J Pediatr       Date:  1984-04       Impact factor: 3.183

7.  Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221.

Authors:  B Chadefaux; D Allard; M O Rethoré; O Raoul; M Poissonnier; S Gilgenkrantz; C Cheruy; H Jérôme
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally.

Authors:  A M Migliorini; R Coco; T C De Negrotti; J M Sanchez; G Castineyra
Journal:  J Med Genet       Date:  1981-10       Impact factor: 6.318

Review 9.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

10.  Systematic analysis of 95 reciprocal translocations of autosomes.

Authors:  A Aurias; M Prieur; B Dutrillaux; J Lejeune
Journal:  Hum Genet       Date:  1978-12-29       Impact factor: 4.132

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