Day

April 18, 2019

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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