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
24
Jan
Diagnosing Cat-Eye syndrome via ‘visual diagnosis’
New research study ongoing directed by Dr. Thomas Liehr of the Jena Institute of Human Genetics in Jena, Germany to learn if diagnosing Cat-Eye syndrome via visual diagnosis is possible. In individuals with Cat-Eye syndrome, the short arm and a small region of the long arm of chromosome 22 (i.e.,... 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
