19
Nov

Fall 2018 Newsletter – Issue no. 82

Fall 2018 Newsletter Letter from the Board: Hello everyone! CDO needs your help. Our team works hard all year to provide the most accurate and updated information possible on rare chromosome and gene disorders to individuals and families. We are sometimes able to find information even when others cannot. From a member, “This nonprofit has...
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02
Nov

De Novo Mutations of the CCNK gene cause a Neurodevelopmental Disorder

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 encoding the information from genes...
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25
Oct

Duplication 14q32, leukemia and myelodysplastic syndrome

Familial myeloid malignancy syndrome associated with the duplication of chromosome 14q32. Myeloid neoplasms refer to conditions involving abnormal growth and function of white blood cells. About 10% of patients with myeloid neoplasms are thought to have a genetic predisposition to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). A recent study described a West Indian...
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15
Oct

How to read Cytogenetic Formulas after Array-CGH

Reading and understanding Cytogenetic Formulas after ARRAY-CGH may be complex. Under normal circumstances each pair of chromosomes has individual characteristics: they have a specific size (length)which is measured in the number of basepairs and a specific distribution of genes within each chromosome. Chromosomes of the same pair have to be identical in their size and...
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11
Oct

Syndromes hidden within the 16p11.2 deletion region

16p11.2 is a region of chromosome 16 particularly prone to deletions and duplications. Copy number variations (CNVs) are defined as specific regions within a chromosome that are either deleted or duplicated. CNVs can either be inherited or can occur spontaneously in patients during development. The effects of CNVs are difficult to define, as the severity...
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