Clinical application of chromosomal microarray analysis for the diagnosis of Williams –Beuren syndrome in Chinese Han patients
ConclusionCMA facilitates diagnosis in individuals with classic/nonclassic features of WBS and demonstrated that when Chinese Han patients present with a less classical phenotype, such as pulmonary abnormalities, this may raise suspicion for a WBS diagnosis and suggest a referral for a genetics evaluation for a differential diagnosis.
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.
ConclusionNewborn screening for SCID enables detection of several conditions, such as 22q syndromes, which should be managed by prompt, proactive approaches with adequate counseling for families by a multidisciplinary team.
Condition: Psychiatrists Intervention: Genetic: Molecular analyses Sponsor: Hôpital le Vinatier Not yet recruiting