Literature DB >> 138497

Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21.

R A Pfeiffer, E K Kessel, K H Soer.   

Abstract

Partial trisomy of the distal portion of the long arm of chromosome no. 21, resulting from a (familial) translocation between the chromosomes no. 19 and 21 in a female twin with Down's syndrome, supports the hypothesis that triplication of 21q22 is the cause of the physical signs of mongolism. Partial trisomy of the remaining segments of chromosome no. 21 due to a (familial) translocation between the chromosomes no. 4 and 21, however, may only cause mental deficiency.

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Year:  1977        PMID: 138497     DOI: 10.1111/j.1399-0004.1977.tb01301.x

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


  15 in total

1.  Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

Authors:  J C Barber; C A Joyce; M N Collinson; J C Nicholson; L R Willatt; H M Dyson; M S Bateman; A J Green; J R Yates; N R Dennis
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318

2.  Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

Authors:  Anne Ronan; Kerry Fagan; Louise Christie; Jeffrey Conroy; Norma J Nowak; Gillian Turner
Journal:  BMJ Case Rep       Date:  2009-06-04

3.  Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.

Authors:  M L Van Keuren; P C Watkins; H A Drabkin; E W Jabs; J F Gusella; D Patterson
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

4.  Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody.

Authors:  M Van Keuren; H Drabkin; I Hart; D Harker; D Patterson; S Vora
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

Review 5.  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

6.  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

7.  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

8.  Hot spots and functional organization of human chromosomes.

Authors:  J R Korenberg; E Therman; C Denniston
Journal:  Hum Genet       Date:  1978-07-12       Impact factor: 4.132

9.  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 10.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

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

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