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De novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

作者信息

López-Pajares I, Martin-Ancel A, Cabello P, Delicado A, Garcia-Alix A, San Roman C

机构信息

Servicio de Genética Médica, Hospital La Paz, Madrid, Spain.

出版信息

Clin Genet. 1993 Feb;43(2):94-7. doi: 10.1111/j.1399-0004.1993.tb04457.x.

DOI:10.1111/j.1399-0004.1993.tb04457.x
PMID:8448910
Abstract

In situ hybridization was used to characterize an undetected chromosome translocation in a child whose metaphase chromosome analysis in peripheral blood and in skin culture revealed apparent monosomy 21. The cytogenetic study revealed 45 chromosomes, and no other structural anomalies were detected with G banding. In situ hybridization of chromosome 21-specific probes to metaphase chromosomes and reverse banding from the proband showed a de novo translocation between chromosome 5 and chromosome 21.

摘要

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引用本文的文献

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Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature.活产中所见的21号染色体单体不太可能代表真正的21号染色体单体：一例病例报告及文献复习
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Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature.
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