22q11.2微缺失的基因型和表型变异-一个机构经验。

IF 0.7 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
AIMS Molecular Science Pub Date : 2021-01-01 Epub Date: 2021-12-09 DOI:10.3934/molsci.2021020
Gabrielle C Manno, Gabrielle S Segal, Alexander Yu, Fangling Xu, Joseph W Ray, Erin Cooney, Allison D Britt, Sunil K Jain, Randall M Goldblum, Sally S Robinson, Jianli Dong
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引用次数: 2

摘要

22q11.2染色体缺失综合征患者典型表现为变异性心脏缺陷、甲状旁腺和甲状腺发育不全、免疫缺陷和腭咽功能不全、发育迟缓、智力残疾、认知障碍和精神障碍。包括染色体微阵列在内的新技术已经在22q11.2区域发现了较小的缺失。越来越多的研究报道,患者表现出各种特征,其中包含较小的22q11.2缺失,这表明需要更好地阐明22q11.2缺失及其表型贡献,以便临床医生更好地指导家庭预后。我们在我们的机构中发现了16例通过染色体微阵列检测到各种22q11.2缺失的儿科患者,并报告他们的临床表现。研究结果包括各种神经发育迟缓,最常见的是注意缺陷多动障碍(ADHD), 1例婴儿死亡,4例早产,1例22q11.2微缺失和唐氏综合症的双重诊断。我们检查了缺失区域的潜在基因型贡献。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.

Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.

Patients with chromosome 22q11.2 deletion syndromes classically present with variable cardiac defects, parathyroid and thyroid gland hypoplasia, immunodeficiency and velopharyngeal insufficiency, developmental delay, intellectual disability, cognitive impairment, and psychiatric disorders. New technologies including chromosome microarray have identified smaller deletions in the 22q11.2 region. An increasing number of studies have reported patients presenting with various features harboring smaller 22q11.2 deletions, suggesting a need to better elucidate 22q11.2 deletions and their phenotypic contributions so that clinicians may better guide prognosis for families. We identified 16 pediatric patients at our institution harboring various 22q11.2 deletions detected by chromosomal microarray and report their clinical presentations. Findings include various neurodevelopmental delays with the most common one being attention deficit hyperactivity disorder (ADHD), one reported case of infant lethality, four cases of preterm birth, one case with dual diagnoses of 22q11.2 microdeletion and Down syndrome. We examined potential genotypic contributions of the deleted regions.

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AIMS Molecular Science
AIMS Molecular Science BIOCHEMISTRY & MOLECULAR BIOLOGY-
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