Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

Blanc P; Gouas L; Francannet C; Giollant M; Vago P; Goumy C

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Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

机译：间质重复20q13.2引起的三体性20q：临床报告和文献复习。

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We report on a 3-year-old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q13.2q13.2)]. The duplication was detected by comparative genomic hybridization (CGH) and confirmed by array CGH. Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13 --> 20qter and highlights the relevance of CGH for the detection of such rearrangements.

机译：我们报道了一个3岁的男孩，由于染色体20长臂三体性而导致中等程度的发育迟缓，颅面畸形异常和室间隔缺损。细胞遗传学缺陷包括远端20q的从头分离的间质重复[dup（ 20）（q13.2q13.2）]。通过比较基因组杂交（CGH）检测重复，并通过阵列CGH确认。审查了其他类似的三体性病例。这一新病例进一步描述了三体性20q13-> 20qter的可识别表型，并强调了CGH与检测此类重排的相关性。

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《American journal of medical genetics, Part A》 |2008年第10期|共5页
作者
Blanc P; Gouas L; Francannet C; Giollant M; Vago P; Goumy C;
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正文语种 eng
中图分类医学遗传学;
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Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

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