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Literature DB >> 6224735

Dissociation of a t(12;21) resulting in a normal cell line in two trisomic 21 sons of a nonmosaic t(12;21) father?

R C Juberg, R Stallard, P Mowrey, C L Valido.

Abstract

A normal cell line arising from a translocation, t(12;21), possibly by dissociation, was observed in two brothers in early life. Each was conceived as trisomic 21 by their 45,XY,-12,-21,+t(12;21) father, who was phenotypically normal. Each brother showed morphologic manifestations of trisomy 21 syndrome, and each was mildly mentally retarded. Dermatoglyphic indices were not diagnostic of trisomy 21 syndrome. At 4 months the younger brother had a 50:50 proportion of trisomic:normal blood cells which became 25:75 of trisomic 21:normal at 36 months. The older brother had a 25:75 proportion of trisomic 21:normal when first studied at 41/2 years. A similar t(12;21) has not previously been reported. The occurrence of an apparently normal cell line arising spontaneously is unique.

Entities: Disease

Mesh：

Year: 1983 PMID： 6224735 DOI： 10.1007/bf00279396

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

13 in total

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Authors: A M Vianna-Morgante; H G Nunesmaia
Journal: J Med Genet Date: 1978-08 Impact factor: 6.318

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Authors: L Weiss; C B Wolf
Journal: Am J Dis Child Date: 1968-12

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Authors: A I Taylor
Journal: Nature Date: 1968-09-07 Impact factor: 49.962

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Authors: M Mikkelsen
Journal: Hum Hered Date: 1974 Impact factor: 0.444

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Authors: P M Lord; M D Casey; B M Laurance
Journal: J Med Genet Date: 1967-09 Impact factor: 6.318

6. Translocations of chromosome 12. II. A comparison of the distribution of sites of spontaneous and induced breakages.

Authors: J H Ford
Journal: Hum Genet Date: 1981 Impact factor: 4.132

7. Translocations involving chromosome 12. I. A report of a 12,21 translocation in a woman with recurrent abortions, and a study of the breakpoints and modes of ascertainment of translocations involving chromosome 12.

Authors: J H Ford; R H Rofe; R P Pavy
Journal: Hum Genet Date: 1981 Impact factor: 4.132

8. 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

Review 3. Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.

Authors: Natalia V Kovaleva; Philip D Cotter
Journal: Mol Cytogenet Date: 2017-05-19 Impact factor: 2.009

3 in total