Effect quantification and value prediction of factors in noninvasive detection for specific fetal copy number variants by semiconductor sequencing
ConclusionThe quantification of effect and value of parameters as well as the method used in this study can benefit the establishment of quality standards for CNVs detection and interpretation of CNVs detection results.
We report a case of a girl with BSS associated with clinical features of 22q11.2 deletion syndrome (22q11.2DS) with phenotypic spectrum of DiGeorge syndrome/velocardiofacial syndrome. She has a history of life-long bleeding tendency, tetralogy of Fallot, hypothyroidism, mild facial dysmorphic signs and macrothrombocytopenia. The BBS and 22q11.2DS association could be explained by the fact that the constitutional hemizygosity of 22q11.2 may unmask an autosomal recessive disorder caused by alterations of the nondeleted GPIbβ allele. We suggest that all patients with 22q11.2DS and bleeding manifestations should be always tested for BSS.
Translational Psychiatry, Published online: 18 November 2019; doi:10.1038/s41398-019-0643-yMitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia
DiGeorge syndrome (DGS) is the most common congenital chromosome deletion syndrome which appears in 1:4000 live births as the result of 22q11.2 microdeletion1. It is a primary immunodeficiency disease (PID), characterized with decreased T-cell numbers1,2. There is a growing body of evidence that DGS is associated with humoral immune deficiency (ID) as the result of B-lymphocyte functional deficit, leading to hypogammaglobulinemia1,2. Patients with DGS show increased incidence of infection and autoimmune diseases (ADs)1.
In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with Müllerian agenesis in a MRKH I and hypothyroidism. Further studies will confirm the direct participation of PAX8 in gene target sequencing in a population of MRKH with hypothyroidism. PMID: 31731040 [PubMed - as supplied by publisher]
17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and ...
ConclusionsIn children with syndromic hypoparathyroidism presented here, replacement therapy with rhPTH(1 –34) allowed to maintain adequate levels of the calcium and phosphate in the blood, normalize urinary calcium excretion, and reduce tetanic episodes. In patients with low compliance to conventional therapy or intestinal malabsorption, the use of rhPTH(1–34) could be considered, also to reduce th e side effects of treatment with vitamin D and calcium.
Abstract Infertility is one of the major health-threatening problems in communities which may lead to psychological problems among couples. Y chromosome abnormalities and microdeletions have recently been considered as one of the male infertility factors. The aim of this study was to evaluate different chromosomal disorders and azoospermia factor b (AZFb), AZFc and AZFd microdeletions in idiopathic non-obstructive oligo or azoospermia infertile men. One hundred infertile (78 azoospermia and 22 oligospermia) and 100 fertile men were included in this study. Luteinizing hormone (LH) and follicle stimulating hormone (...
We report here a 28 year-old man presenting with SHFM, sparse hair and widespread freckles. Array-CGH identified a 450 kb de novo 20p12.1 microdeletion encompassing three exons (exon 6 to 8) of MACROD2. Although MACROD2 mutations have not been associated with limb malformation until now, it is located next to KIF16B, which is involved in fibroblast growth factor receptor (FGFR) signaling. Additionally, the deletion encompassed a histone modification H3K27ac mark, known as a provider of quantitative readout of promoter and enhancer activity during human limb development. Altogether, these findings suggest that the 20p12.1...
We present a patient with 17q12 deletion syndrome with significant atopy.