2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric
deletion disorders, caused by a 2q37 deletion of variable size. The syndrome is …

In several patients, intellectual disability and/or congenital malformation may be attributed to
chromosomal changes. In this study, we conducted an array-CGH test of 200 patients from …

Background: Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of
one of the X chromosomes. It this report we describe a young patient presenting some …

分析伴有生长迟缓的3 例超雌综合征(47, XXX 综合征) 患儿的临床资料, 包括身高, 染色体核型,
以及生长激素, 胰岛素样生长因子-1, 性腺发育水平等. 3 例患儿均因发现生长速度缓慢就诊 …

Ataxia-telangiectasia (AT) is a rare neurodegenerative disease characterized by an early
onset ataxia, oculocutaneous telangiectasia, immunodeficiency, recurrent infections, radio …

Absztrakt: Bevezetés: A nemi kromoszóma-rendellenességek időben történő diagnózisa a
prevenció, a családtervezés és a megfelelő kezelés érdekében egyaránt fontos. Célkitűzés …

Genomic engineering has enormous potential along basic research, drug discovery and cell
therapeutics. Many existing methods for targeted gene knockout mutagenesis or integration …

Objectives: The objective of this study was to evaluate the performance of non-invasive
prenatal testing (NIPT) in detecting fetus sex chromosome aneuploidy (SCA). Methods: This …

Backgrounds: Turner syndrome (TS) also called monosomy X or Ulrich, is a congenital
disorder caused by one intact X chromosome and the absence of second sex chromosomes …

Aim Investigation of the relationship between phenotype, age at time of diagnosis and
therapeutic options in sex chromosome aberrations. Method Processing data of 51 children …