Genetics Home Reference: 3p deletion syndrome

Source: NLM General Announcements - Category: Databases & Libraries Source Type: news

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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 ...
Source: Italian Journal of Pediatrics - Category: Pediatrics Authors: Tags: Case report Source Type: research
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.
Source: Endocrine - Category: Endocrinology Source Type: research
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Source: Systems Biology in Reproductive Medicine - Category: Sexual Medicine Authors: Source Type: research
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 (...
Source: Systems Biology in Reproductive Medicine - Category: Reproduction Medicine Authors: Tags: Syst Biol Reprod Med Source Type: research
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...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
We present a patient with 17q12 deletion syndrome with significant atopy.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Source Type: research
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.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Condition:   Psychiatrists Intervention:   Genetic: Molecular analyses Sponsor:   Hôpital le Vinatier Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Di George Syndrome Intervention:   Genetic: Molecular analyses Sponsor:   Hôpital le Vinatier Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Psychiatrists Intervention:   Genetic: Molecular analyses Sponsor:   Hôpital le Vinatier Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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