Split hand/foot malformation associated with 20p12.1 deletion: A case report.

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 CNV is causative of SHFM in the present case through disturbance of regulatory elements functioning. PMID: 31698100 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research

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In conclusion, this study suggests the possible involvement of this gene fusion, together with the other previously identified variants, in ASD. PMID: 31800155 [PubMed - as supplied by publisher]
Source: J Cell Mol Med - Category: Molecular Biology Authors: Tags: J Cell Mol Med Source Type: research
ConclusionsThere is a recognised need to strengthen transition pathways. This is especially true in this at risk group, given the poorer outcomes associated with transitions in youth with ID along with the additive effect of medical and mental health and learning difficulties that often co-occur in 22q11.2ds. A patient –clinician communication tool, designed by participants, offers a pragmatic approach to optimise healthcare transitions, support continuity of healthcare and personal autonomy.
Source: Irish Journal of Medical Science - Category: General Medicine Source Type: research
In this study, we performed an extensive assessment of the value of CMA for the diagnosis of children with ID/DD in China. Methods: A total of 633 patients diagnosed with DD/ID in West China Second University Hospital, Sichuan University, were recruited from January 2014 to March 2019. The patients were classified into 4 subgroups: isolated DD/ID, DD/ID with multiple congenital anomalies (MCA), isolated autism spectrum disorders (ASDs), and DD/ID with epilepsy. CMA was performed on Affymetrix 750K platform. Results: Among the 633 patients, 127 cases were identified as having pathogenic copy number variations (pCN...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
In conclusion, PCA applied to T cell MFC data might help the physician to estimate the severity of specific PID and to diversify the clinical and diagnostic approach of the patients.
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
PMID: 31793865 [PubMed - as supplied by publisher]
Source: Canadian Urological Association Journal - Category: Urology & Nephrology Authors: Tags: Can Urol Assoc J Source Type: research
ConclusionKagami –Ogata syndrome should have been suspected because of the presence of polyhydramnios and omphalocele during pregnancy. Respiratory insufficiency soon after birth, because of a small thorax, is expected in this disease and a diagnosis during pregnancy may have enabled appropriate care after birth.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasi...
Source: Molecular Cytogenetics - Category: Molecular Biology Authors: Tags: Research Source Type: research
Background: Array comparative genomic hybridization (aCGH), karyotyping and fluorescence in situ hybridization (FISH) analyses have been used in a clinical cytogenetic laboratory. A systematic analysis on diagnostic findings of cytogenomic abnormalities in current prenatal and pediatric settings provides approaches for future improvement.Methods: A retrospective analysis was performed on abnormal findings by aCGH, karyotyping, and FISH from 3,608 prenatal cases and 4,509 pediatric cases during 2008–2017. The diagnostic accuracy was evaluated by comparing the abnormality detection rate (ADR) and the relative frequency...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
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.
Source: Blood Coagulation and Fibrinolysis - Category: Hematology Tags: CASE REPORTS Source Type: research
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
Source: Translational Psychiatry - Category: Psychiatry Authors: Source Type: research
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