Tag

genetic disorders

23
Apr

Spring 2019 Newsletter – Issue No. 83

‘Seeing’ the first signs of Spring My daughter Elizabeth turned 27 in March. Along with coping with many other physical and medical challenges, Elizabeth is also visually impaired (see full issue for a resource that she really loves). Since she is non-verbal, it has always been difficult to determine the...
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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...
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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...
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