By

Linda Sorg

18
Apr

Chromosome 15q14 deletions and loss of the MEIS2 gene

This summary discusses chromosome 15q14 deletions and the loss of the MEIS2 gene. 15q14 deletions (deletions occurring within this region of the long arm of chromosome 15) are known to cause cleft palate, intellectual disability, congenital heart defects, and facial dysmorphism. Loss of the MEIS2 gene located within 15q14 has...
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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),...
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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...
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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...
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