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Latest Research Articles

08
Jul

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome 10q23 microdeletions

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a genetic condition characterized by large head size, hamartomas, intestinal polyposis, and genital pigmentation. Intellectual disability is found is around half of BRRS patients as well. This disorder...
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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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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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