Literature DB >> 2147170

Translocation Down's syndrome.

P Lakshminarayana1.   

Abstract

Among the 500 Down syndrome children karyotyped, 15 (3%) were due to translocation; 10 were 21;21 translocation and five 14;21. There were 9 cases of de novo translocations, while 6 were inherited from father or mother. Family history was characteristic in all the translocation cases, with younger parental age, fetal wastage in the family, recurrence and with the affected child often being either the first or the only liveborn in the family. The pattern of translocation in Madras and the significance of family history in genetic counselling are discussed.

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Year:  1990        PMID: 2147170     DOI: 10.1007/bf02722100

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  9 in total

1.  MORPHOLOGICAL AND BEHAVIORAL CONSEQUENCES OF CHROMOSOME SUBTYPE IN MONGOLISM.

Authors:  D GIBSON; J POZSONYI
Journal:  Am J Ment Defic       Date:  1965-05

2.  Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors:  P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal:  Exp Cell Res       Date:  1960-09       Impact factor: 3.905

3.  A Mongol girl with 46 chromosomes.

Authors:  P E POLANI; J H BRIGGS; C E FORD; C M CLARKE; J M BERG
Journal:  Lancet       Date:  1960-04-02       Impact factor: 79.321

4.  Pericentric inversion in a family with a 21/22 translocation.

Authors:  D Soudek; R Laxová; R Adámek
Journal:  Cytogenetics       Date:  1968

5.  Sibship (21q21q) translocation Down's syndrome with maternal transmission.

Authors:  M Furbetta; A Falorni; P Antignani; A Cao
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

6.  Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.

Authors:  E Niebuhr
Journal:  Humangenetik       Date:  1974-01-22

7.  Parental age and unbalanced Robertsonian translocations associated with Down syndrome and Patau syndrome: comparison with maternal and paternal age effects for 47, +21 and 47, +13.

Authors:  E B Hook
Journal:  Ann Hum Genet       Date:  1984-10       Impact factor: 1.670

8.  Down's syndrome: significance of the family history.

Authors:  S D Shapiro; R J Jorgenson; F E Yoder
Journal:  South Med J       Date:  1981-08       Impact factor: 0.954

9.  Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.

Authors:  J D Williams; R L Summitt; P R Martens; R A Kimbrell
Journal:  Am J Hum Genet       Date:  1975-07       Impact factor: 11.025

  9 in total
  1 in total

Review 1.  A rare reciprocal translocation (12;21) segregating for nine generations.

Authors:  S Koskinen; T Onnelainen; A de la Chapelle; J Kere
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

  1 in total

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