نتایج جستجو برای: microdeletion
تعداد نتایج: 1516 فیلتر نتایج به سال:
We have previously identified a recurrent deletion at chromosomal band 3p14.1-p13 in patients with acute myeloid leukemia (AML). Among eight protein-coding genes, this microdeletion affects the protein phosphatase 4 regulatory subunit 2 (PPP4R2), which plays an important role in DNA damage response (DDR). Investigation of mRNA expression during murine myelopoiesis determined that Ppp4r2 is high...
BACKGROUND The recurrent ∼ 600 kb 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. CASE PRESENTATION Our patient is a 2-year-old white girl from the first pregnancy of a non-consanguineous healthy young white couple (father 33-years old and mother 29-years old). Our patient and her ...
INTRODUCTION The aim of study is determining the cost-effectiveness of detection analysis in the presence of exceptional patients who have mild semen disorders, and beware of unnecessary varicocele repairs; and to ascertain whether patients with clinical varicocele should undergo Y chromosome (Yq) microdeletion analysis as a routine procedure. MATERIAL AND METHODS Varicocele with reflux was d...
Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We then set out to determine the relative occurrence of sporadic and familial cases and to examine the li...
Chromosome 17q21.31 microdeletion was one of the first genomic disorders identified by chromosome microarrays. We report here the clinical and molecular characterization of a new series of 14 French patients with this microdeletion syndrome. The most frequent clinical features were hypotonia, developmental delay and facial dysmorphism, but scaphocephaly, prenatal ischemic infarction and percept...
objective: 22q11.2 chromosomal region is a hot spot for many cytogenetic rearrangements especially microdeletions which are responsible for digeorge and velocardiofacial syndromes. the most characteristic sign in these patients is congenital cardiac conotruncal anomalies. the gold standard diagnostic test for these microdeletions is fish (fluorescent in situ hybridization). however this diagnos...
Spermatogenesis is an essential stage in human male gamete development, which is regulated by many Y chromosome specific genes. Most of these genes are centred in a specific region located on the long arm of the human Y chromosome known as the azoospermia factor region (AZF). Deletion events are common in Y chromosome because of its peculiar structural organization. Astonishingly, among the sev...
Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features. The syndrome can be either caused by a microdeletion in chromosomal region 9q34.3 or by a mutation in the euchromatin histone methyltransferase 1 (EHMT1) gene. Since the early 1990s, 85 patients have been described, of which the majority h...
BACKGROUND While multiple factors can contribute to male infertility, genetic factors, such as chromosomal disorders or Y-chromosome microdeletion, are responsible for about 10% of male infertility. Considering the role of Y-chromosome micro-deletions in men with oligozoospermia who volunteer for in vitro fertilization (IVF), the prevalence of such microdeletions in each particular community ne...
BACKGROUND As children with velocardiofacial syndrome (VCFS) develop, they are at increased risk for psychopathology; one third will eventually develop schizophrenia. Because VCFS and the concomitant symptomatology result from a known genetic origin, the biological and behavioral characteristics of the syndrome provide an optimal framework for conceptualizing the associations among genes, brain...
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