Literature DB >> 3981584

'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1).

G Plessis, J Couturier, C Turleau, S Despoisses, J Delavenne.   

Abstract

This report describes a male infant with partial trisomy 2q: 46,Y,der(X),t(X;2) (p22.3;q32.1)mat. The phenotype was compatible with partial trisomy 2q syndrome. Replication studies showed a random X inactivation in the mother. Soluble isocitrate dehydrogenase (IDH-1) dosage was within the expected range for a trisomic patient and favours the assignment of this locus to the region 2q32----qter.

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Year:  1985        PMID： 3981584      PMCID： PMC1049383          DOI： 10.1136/jmg.22.1.70

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


  5 in total

1.  Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers.

Authors:  C Turleau; F Chavin-Colin; J de Grouchy; G Repessé; P Beauvais
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

Review 2.  X-autosome translocations: a review.

Authors:  R L Summitt; R E Tipton; R S Wilroy; P R Martens; J P Phelan
Journal:  Birth Defects Orig Artic Ser       Date:  1978

3.  Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation.

Authors:  B Hellkuhl; A de la Chapelle; K H Grzeschik
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  Late replication studies in a human X/13 translocation: correlation with autosomal gene expression.

Authors:  T Mohandas; B F Crandall; R S Sparkes; M B Passage; M C Sparkes
Journal:  Cytogenet Cell Genet       Date:  1981

5.  Mental retardation in association with a balanced X-autosome translocation and random inactivation of the X chromosomes.

Authors:  M E Sands
Journal:  Clin Genet       Date:  1980-05       Impact factor: 4.438
  5 in total
  1 in total

Review 1.  The critical region on the human Xq.

Authors:  E Therman; R Laxova; B Susman
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132
  1 in total

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