31
Jan
de novo 12q24.31 MODY3 diagnosis
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Molecular diagnosis of MODY3 reveals a de novo 12q24.31 deletion explaining a complex phenotype in a young diabetic patient Monogenic diabetes is present in 2-6% of pediatric patients and maturity onset diabetes of the young (MODY) is the most common form. MODY includes a number of heterogeneous disorders where... Read More
17
Jan
Risk factors of clinical dysimmune manifestations in children with 22q11.2 deletion syndrome
Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France 22q11.2 deletion syndrome is one of the most common microdeletion syndromes. Patients with this syndrome have a higher risk of infections, autoimmune diseases, and allergies. Deletions that include the... Read More
17
Jan
Genotypic and phenotypic variability of chromosome 22q11.2 microduplications
Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience 22q11.2 region is rich in low copy repeats (large repetitive blocks of DNA that are similar to each other), which makes the region prone to both deletions and duplications during meiosis. Deletions of 22q11.2 are very common. Microduplications of this... Read More
14
Nov
Neuropsychiatric phenotypes and ASD features in 3q29 deletion syndrome
Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry The phenotype of 3q29 deletion syndrome is characterized mainly by neurodevelopmental and psychiatric features. Usually this syndrome is caused by a de novo deletion, typically 1.6 Mb, on chromosome 3. Although, it... Read More
07
Nov
Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
Phelan-McDermid Syndrome (PMS), also known as 22q13 Deletion Syndrome, is a rare genetic disorder caused by deletions in the 22q13.3 region involving the SHANK3 gene, Sometimes mutations in the SHANK3 gene may produce the same condition. Clinical features in patients broadly vary and include global developmental delay, intellectual disability... Read More
