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Updated: May 26, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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诊断成长不良:同卵双胞胎中的22q11.2删除综合征

Siena Vadakal1, Daniel Valladares2, Laura Jacobsen3

  • 1Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA sienavadakal@ufl.edu.

BMJ case reports
|February 22, 2025
PubMed
概括

22q11.2删除综合征 (22q11.2DS) 可以呈现出微妙的,具有挑战性的诊断. 这一案例凸显了考虑22q11.2DS在患有发育不良的婴儿身上的重要性,即使没有典型症状.

关键词:
遗传性疾病 遗传性疾病没有成功地壮成长.婴儿健康 婴儿健康儿科 儿科 儿科

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