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首页> 外文期刊>American journal of medical genetics, Part A >Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.
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Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.

机译：染色体内重复12p11.22-p12.3和部分四体性12p的性腺镶嵌。

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摘要

Cases of tetrasomy 12p and trisomy 12p are known to be associated with specific phenotypic abnormalities well described in the literature. Here, we report on the unusual case of a partial tetrasomy 12p found in an affected patient and in a mosaic constellation in the patient's mother, who showed no phenotypic abnormality. The index patient was a 16-year-old boy with clinical features similar to the "trisomy 12p syndrome" including mental retardation, macrocephaly, a short nose with anteverted nostrils, and a broad protruding lower lip. G-banding analysis and fluorescence in situ hybridization (FISH) experiments using locus specific YAC DNA probes revealed a derivative chromosome 12 with a partial triplication of the short arm with an inverted copy, flanked by two direct copies. Chromosome analyses in parental lymphocytes showed a chromosomal mosaicism in the phenotypically normal mother, with 12% cells exhibiting the same partial tetrasomy 12p as detected in her son. The allelic pattern of short tandemrepeats (STR) in the mother's blood DNA showed that a chimerism can be excluded with high probability. To our knowledge, this is the first report of intrachromosomal triplication on chromosome 12, as well as partial tetrasomy 12p mosaicism. Moreover, as a consequence of the chromosomal aberration in the son it can be concluded that a gonadal mosaicism is present in the mother.
机译：已知四体性12p和三体性12p的病例与文献中充分描述的特定表型异常有关。在这里，我们报道了在受影响的患者和患者母亲的镶嵌星座中发现的12p部分四体性异常病例，该病例未表现出表型异常。索引患者是一个16岁的男孩，其临床特征类似于“三体性12p综合征”，包括智力低下，大头畸形，鼻孔短而鼻孔狭窄，下唇宽大突出。使用位点特异性YAC DNA探针进行的G谱带分析和荧光原位杂交（FISH）实验显示，衍生的12号染色体具有短臂的部分三倍体，具有反向拷贝，两侧是两个直接拷贝。父母淋巴细胞的染色体分析显示，在表型正常的母亲中，染色体镶嵌症的发生率很高，其中有12％的细胞表现出与她儿子所检测到的相同的12p部分四体性。母亲血液DNA中的短串联重复序列（STR）的等位基因模式显示，可以高度排除嵌合现象。据我们所知，这是第12号染色体上染色体内三倍复制以及部分四体12p镶嵌的首次报道。此外，由于儿子中的染色体畸变，可以得出结论，母亲中存在性腺镶嵌症。

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