18
Apr

Prenatal profile of Pallister-Killian Syndrome

Determining a prenatal profile for Pallister-Killian Syndrome leads to earlier genetic counseling and symptom management. Pallister-Killian syndrome (PKS) is a genetic condition which results in a variety of symptoms, including facial dysmorphisms, skin discolorations, intellectual disability, developmental delay, congenital heart defects, congenital diaphragmatic hernia (abdominal hernias that occur in fetuses), malformations in the gastrointestinal tract...
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26
Mar

Q&A: Special Needs Trusts

Q&A Special Needs Trusts (SNT) Special Needs Trusts (also called Supplemental Needs Trusts) are trust funds that are set up for the benefit of person with disabilities who qualifies for Supplemental Security Income or Medicaid. The purpose of the SNT is to provide for those “extras” that are not covered by SSI or Medicaid without...
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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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