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"Jumping" satellites in three generations: a warning for paternity tests and prenatal diagnosis.

作者信息

Gimelli G, Porro E, Santi F, Scappaticci S, Zuffardi O

出版信息

Hum Genet. 1976 Dec 15;34(3):315-8. doi: 10.1007/BF00295297.

DOI:10.1007/BF00295297
PMID:1002155
Abstract

Prominent intensely fluorescent satellites on one chromosome 22 seem to have been transferred, during gametogenesis of a male carrier of a balanced 10/22 translocation, from the normal 22 to the translocated 22 in his daughter and son, both carriers of the translocation. Prenatal diagnosis was performed in the carrier daughter and in the chromosomally normal female foetus the satellites have jumped back to one normal chromosome 22. The phenomenon is probably due to exchanges between the short arms of chromosome 22 at meiotic pairing in the father and in his daughter. These observations give a warning for caution in the use of marker variants for paternity tests and prenatal diagnosis.

摘要

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本文引用的文献

1
HL-A antigens and heteromorphic fluorescence characters of chromosomes in prenatal paternity investigation.产前亲子鉴定中HL-A抗原与染色体的异形荧光特征
Nature. 1972 Apr 7;236(5345):312-3. doi: 10.1038/236312a0.
2
A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.对14,069名新生儿的细胞遗传学调查。I. 染色体异常的发生率。
Clin Genet. 1975 Oct;8(4):223-43. doi: 10.1111/j.1399-0004.1975.tb01498.x.
3
The value of fluorescence markers in the distinction between maternal and fetal chromosomes.
Am J Hum Genet. 1981 Sep;33(5):745-51.
荧光标记物在区分母源和胎儿染色体中的价值。
Humangenetik. 1975;26(3):187-91. doi: 10.1007/BF00281452.