Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

Isabel Ochando; Melanie Cristine Alonzo Martínez; Ana María Serrano; Antonio Urbano; Eduardo Cazorla; Dolores Calvo; Joaquín Rueda

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Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

机译：从头复制15q24.3-q26.1的产前诊断和分子细胞遗传学特征

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Reported cases of distal 15q interstitial duplications are uncommon and do not result in a recognizable pattern of abnormalities. Some studies report prenatal overgrowth, while others describe growth retardation. We present molecular cytogenetic characterization of a 14?Mb interstitial duplication, encompassing 81 Online Mendelian Inheritance in Man (OMIM) genes, in a fetus with single umbilical artery and short limbs. We propose that growth restriction, previously described and present in our patient, may be due to duplication of a gene or genes contained in the 15q24 region.

机译：远端15q间质重复的报道病例很少见，并且不会导致可识别的异常模式。一些研究报告了产前过度生长，而另一些研究则描述了发育迟缓。我们目前在单脐动脉和短肢胎儿中的14？Mb间质复制的分子细胞遗传学特征，包括81个在线孟德尔男性遗传（OMIM）基因。我们提出，先前描述和存在于我们患者体内的生长限制可能是由于15q24区域中包含的一个或多个基因重复造成的。

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《The Application of Clinical Genetics》 |2018年第2011期|共4页
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Isabel Ochando; Melanie Cristine Alonzo Martínez; Ana María Serrano; Antonio Urbano; Eduardo Cazorla; Dolores Calvo; Joaquín Rueda;
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中图分类人类遗传学;
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1. Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1 [J] . Ochando Isabel, Alonzo Melanie, Maria Serrano Ana, Chromosome research: An international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology . 2015,第Suppla1期

机译：新诊断和分子细胞遗传学表征15Q24.3-Q26.1的新重复性
2. Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1 [J] . Ochando Isabel, Alonzo Melanie, Maria Serrano Ana, Chromosome research: An international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology . 2015,第Suppla1期

机译：新诊断和分子细胞遗传学表征15Q24.3-Q26.1的新重复性
3. A rare de novo duplication of chromosome 21q22.12?→?q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization [J] . Qingwei Qi, Xiya Zhou, Yulin Jiang, Molecular cytogenetics . 2013,第19期

机译：罕见的从头复制21q22.12？→？q22.3染色体，以及与唐氏综合症相关的21q小片段的其他伴随缺失和重复：产前诊断，分子细胞遗传学表征
4. GENE LOCATION AND MUTATION DETECTION IN A LARGE CHINESE FAMILY WITH SEDC AND MOLECULAR PRENATAL DIAGNOSIS OF SEDC [C] . Xin-Yi Xia, Ying-Xia Cui, Bing Yao, International Forum on Progress on Post-Genome Technologies(5'IFPT); 20070910-11; Suzhou(CN) . 2007

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6. Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1 [O] . Isabel Ochando, Melanie Cristine Alonzo Martínez, Ana María Serrano, 2018

机译：从头复制15q24.3-q26.1的产前诊断和分子细胞遗传学特征
7. A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization [O] . Qingwei Qi, Xiya Zhou, Yulin Jiang, 2013

机译：罕见的从头复制21q22.12→q22.3染色体，以及与唐氏综合症相关的21q小片段的其他伴随缺失和重复：产前诊断，分子细胞遗传学表征
8. Pathogenesis of Ovarian Serous Carcinoma as the Basis for Immunologic Directed Diagnosis and Treatment. Project 1 - Molecular Characterization of Ovarian Serous Tumors Developing Along Different Pathways [R] . Kurman, R. J. , Shih, I. 2003

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Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

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