Human pluripotent stem cells (hPSCs) are a valuable tool for the study of the cellular and
molecular mechanisms that underlie different types of diabetes. However, one pitfall of …

Abstract D‐2‐hydroxyglutaric aciduria (D‐2‐HGA) is a rare neurometabolic disease with two
main subtypes, caused by either inactivating variants in D2HGDH (type I) or germline gain of …

Microarray analysis is an efficient approach for screening and identifying cytogenetic
imbalances in humans. SNP arrays, in particular, are a powerful way to identify copy-number …

Duplication of the distal 1q and 4p segments are both characterized by the presence of
intellectual disability/neurodevelopmental delay and dysmorphisms. Here, we describe a …

Background Developmental delay and intellectual disability represent a common pathology
in general population, involving about 3% of the pediatric age population, the genetic …

目的: 探讨1 例发育落后患儿染色体拷贝数变异的性质及来源, 分析基因型与疾病表型的相关性.
方法: 应用常规G 显带分析患儿及其父母的外周血染色体核型, 并对患儿进行二代测序(next …

Rearrangements of the region 1q42. 13q43 are rare, with only 7 cases reported to date. The
imbalances described are usually the result of inherited translocations with other …

Abstract Background Complex genomic rearrangements (CGRs) consisting of interstitial
triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in …

De novo partial distal 1q trisomy is uncommon and mostly occurs in combination with
monosomy of another chromosome due to a parental translocation. Distal 1q trisomy co …

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