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首页> 外文期刊>Taiwanese journal of obstetrics and gynecology >Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability
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Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability

机译：一名身材矮小，肥胖，注意力缺陷多动症的18岁女性中源自8号染色体或r（8）（:: p11.22→q11.21：:)的一条小数字标记染色体的镶嵌术的分子细胞遗传学特征障碍和智力障碍

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Objective We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. Materials and Methods An 18-year-old female presented with short stature, obesity, developmental delay, speech delay, dyslexia, attention deficit hyperactivity disorder, and intellectual disability. Cytogenetic analysis of the peripheral blood revealed a karyotype of 47,XX,+mar[22]/46,XX[18]. Array comparative genomic hybridization and metaphase fluorescence in situ hybridization analyses were performed on the peripheral blood to determine the origin and mosaicism of the sSMC, and quantitative fluorescent polymerase chain reaction was used to exclude uniparental disomy. Results Array comparative genomic hybridization analysis of the blood revealed a result of arr 8p11.22q11.21 (39,136,065-49,725,726)×2.80 (Log2 ratio = 0.49), consistent with 70–80% mosaicism, encompassing 33 OMIM genes including GOLGA7 , AGPAT6 , NKX6-3 , KAT6A , and FNTA . The sSMC(8) was r(8)(::p11.22→q11.21::). Metaphase fluorescence in situ hybridization analysis using the probes of RP11-754D24 (8p11.21) and RP11-769N21 (8q11.21) showed the sSMC(8) in 12/27 of cultured lymphocytes. Quantitative fluorescent polymerase chain reaction analysis excluded uniparental disomy 8. Conclusion Mosaic sSMC(8) derived from r(8)(::p11.22→q11.21::) can be associated with obesity, intellectual disability, and attention deficit hyperactivity disorder.
机译：目的我们介绍一个来源于8号染色体的小的数字标记染色体（sSMC）的镶嵌术的分子细胞遗传学特征。材料与方法一名18岁女性，身材矮小，肥胖，发育迟缓，语言障碍，阅读障碍，注意力缺陷多动障碍和智力障碍。外周血的细胞遗传学分析显示核型为47，XX，+ mar [22] / 46，XX [18]。对外周血进行阵列比较基因组杂交和中期荧光原位杂交分析，以确定sSMC的来源和镶嵌，并使用定量荧光聚合酶链反应排除单亲二体性。结果血液的阵列比较基因组杂交分析显示arr 8p11.22q11.21（39,136,065-49,725,726）×2.80（Log2比= 0.49），与70-80％的镶嵌率一致，涵盖33个OMIM基因，包括GOLGA7，AGPAT6， NKX6-3，KAT6A和FNTA。 sSMC（8）是r（8）（:: p11.22→q11.21：:)。使用RP11-754D24（8p11.21）和RP11-769N21（8q11.21）探针进行的中期荧光原位杂交分析显示，在培养的淋巴细胞的12/27中有sSMC（8）。定量荧光聚合酶链反应分析不包括单亲二倍体8。结论源自r（8）（:: p11.22→q11.21：:)的马赛克sSMC（8）与肥胖，智力障碍和注意力不足过动症有关。

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