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Multiple "marker" chromosomes: a novel cytogenetic finding in a patient with mental retardation and congenital anomalies.

作者信息

Tozzi C, Calvieri F, Alesi L, Neri G

机构信息

Centro G. Lelli per le Embriofetopatie, Ospedale S. Giovanni, Roma, Italy.

出版信息

Am J Med Genet. 1988 Feb;29(2):355-9. doi: 10.1002/ajmg.1320290214.

DOI:10.1002/ajmg.1320290214
PMID:3354606
Abstract

A patient with mental retardation and clinical manifestations suggestive of Noonan syndrome was found to have in her peripheral lymphocytes multiple small accessory marker chromosomes, varying in number from one to five per cell and in size from about half the size of the q arm of a G group chromosome to less than a centromere. Occasionally, in the more elongated markers, a G-positive or a C-positive band could be identified, or the marker had the appearance of a ring. The origin and significance of these marker chromosomes are discussed.

摘要

相似文献

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Multiple "marker" chromosomes: a novel cytogenetic finding in a patient with mental retardation and congenital anomalies.
Am J Med Genet. 1988 Feb;29(2):355-9. doi: 10.1002/ajmg.1320290214.
2
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Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation.一名患有智力障碍/多重先天性异常综合征及色素沉着异常的儿童出现涉及14号染色体异常的罕见细胞遗传学镶嵌现象。
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Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes.通过与α-卫星DNA探针逐步杂交对27例患者的标记染色体进行有效鉴定。
Hum Genet. 1993 Mar;91(2):131-40. doi: 10.1007/BF00222713.