02
Nov
De Novo Mutations of the CCNK gene cause a Neurodevelopmental Disorder
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De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism Cytogenetic location 14q32.2 Neurodevelopment is a complex process that requires the coordination and regulation of several cellular activities. This regulation is maintained through precise control of when genes are transcribed. Gene transcription is the process of... Read More
25
May
Inherited Microdeletions or microduplications – a benign finding?
Are inherited microdeletions or microduplications a benign finding or more complex? Small deletions or duplications of chromosomal material may be found upon examination of patients with several neurodevelopmental problems (autism, epilepsy, intellectual disability) or birth defects. In many instances the same chromosomal abnormalities are found in one of their apparently... Read More
25
May
2q33.1 deletion and SATB2 gene mutation or deletion
Newly published article discussing 2q33.1 deletion and SATB2 gene mutation or deletion. SATB2-associated syndrome (SAS) is a disorder caused by mutations of the SATB2 gene or deletion of this gene within 2q33.1, a region within the long arm of chromosome 2. The symptoms of SAS include developmental... Read More
30
Jan
Chromosome 7p22 deletion – symptoms directly caused by the loss of gene ACTB
Chromosome 7p22 deletion and associated symptoms directly caused by the loss of gene ACTB. 7p22 deletion – a deletion within the short arm of chromosome 7 – causes a number of symptoms, including developmental delay, intellectual disability, internal organ malformations (primarily within the heart and kidneys), and facial abnormalities. These... Read More
30
Jan
22q11.2 deletion and often overlooked orthopedic manifestations a review
22q11.2 deletion and often overlooked orthopedic manifestations a review. 22q11.2 deletions – caused by a deletion within the long arm of chromosome 22 – are one of the most common microdeletion syndromes. Orthopedic issues (relating to the bones or muscles) are common in patients with 22q11.2 deletions, with cervical spine... Read More
