Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited
Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited
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DOI：
10.1038/sj.ejhg.5201311
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发表时间：
2005-02-01
影响因子：
5.2
通讯作者：
Jacobs, PA
中科院分区：
文献类型：
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作者：
Crolla, JA;Youings, SA;Jacobs, PA
从1967年至今，在威塞克斯地区遗传学实验室(WRGL)诊断的所有细胞遗传学异常的细节都被记录在索尔兹伯里兴趣染色体金库(STOIC)。从这一来源中，我们确定了137例构成常染色体额外标记染色体(SMC)，主要分为四组：(I)37%的表型异常；(Ii)7%的夫妇有生育困难；(Iii)47%的产前诊断；(Iv)9%的其他类型。总体而言，81例(59%)SMC为马赛克，56例(41%)为非马赛克。在109例已知父母来源的病例中，70%是从头遗传，19%是母系遗传，11%是父系遗传。应用荧光原位杂交技术(FISH)对112/137(82%)的SMC进行了染色体定位。其中36/112(32%)来自非端着丝粒常染色体，76/112(68%)来自13/21、14、15和22。在这些SMC中，39个(51%)来源于15号染色体，因此SMC(15)占所有已知染色体来源的SMC的39/112(35%)。嵌合体的出现频率因SMC的染色体来源不同而有很大差异，其中8/39(20%)的SMC(15)、13/37(35%)的其他端着丝粒SMC和25/36(69%)的非顶端着丝粒SMC。对这些数据进行了父母年龄效应的分析，发现只有初出茅庐的S与显著增加的母亲年龄有关。
The details of all cytogenetic abnormalities diagnosed in the Wessex Regional Genetics Laboratory (WRGL) since 1967 to the present day have been recorded in the Salisbury Treasury of Interesting Chromosomes ( STOIC). From this resource, we identified 137 patients with constitutional autosomal supernumerary marker chromosomes (SMC) ascertained in four principal groups: (i) 37% with abnormal phenotypes; (ii) 7% couples with reproductive difficulties; (iii) 47% antenatal diagnoses and (iv) 9% miscellaneous. Overall, 81 (59%) SMCs were mosaics and 56 (41%) nonmosaics. Of the 109 cases with known parental origins, 70% were de novo, 19% maternally and 11% paternally inherited. The chromosomal origins of 112/137 (82%) of the SMCs have been determined by fluorescence in situ hybridization ( FISH). In all, 36/112 (32%) were derived from nonacrocentric autosomes, and 76/112 (68%) from the acrocentric autosomes 13/21, 14, 15 and 22. Of these acrocentric SMCs, 39 (51%) were derived from chromosome 15, so that SMC( 15) constituted 39/112 (35%) of all SMCs with known chromosomal origins. The frequencies with which mosaicism was observed varied considerably according to the chromosomal origin of the SMCs and accounted for 8/39 (20%) SMC(15), 13/37 (35%) SMCs from other acrocentrics and 25/36 (69%) of nonacrocentric SMCs. The data were analysed for parental age effects, and only de novo SMC(15)s were found to be associated with a significantly increased maternal age.