08
Feb
Common neuropsychiatric features in 22q11.2 deletion syndrome
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Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome 22q11.2 deletion is one of the most common microdeletion syndromes. The clinical features of this condition are broad and highly variable across physical, developmental, and mental health domains. This article analyzes neurological and psychiatric characteristics... Read More
08
Feb
Chromosome 5q34-q35.2 microdeletion and congenital heart disease
An adult female with chromosome 5q34-q35.2 microdeletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease Microdeletions in the distal segment of chromosome 5q have rarely been reported in the literature with less than 20 published cases. Common features that have been identified in distal 5q... Read More
06
Feb
A small 7p22.3 microdeletion: Case report of SNX8 haploinsufficiency and neurological findings
A small 7p22.3 microdeletion: Case report of SNX8 haploinsufficiency and neurological findings 7p22.3 microdeletion, a small deletion within the short arm of chromosome 7, has been reported in the literature before, but the genotype-phenotype correlation remains uncertain. Clinical features in previous cases include developmental delay, intellectual disability, congenital heart disease,... Read More
31
Jan
de novo 12q24.31 MODY3 diagnosis
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
