23
Apr
Spring 2019 Newsletter – Issue No. 83
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‘Seeing’ the first signs of Spring My daughter Elizabeth turned 27 in March. Along with coping with many other physical and medical challenges, Elizabeth is also visually impaired (see full issue for a resource that she really loves). Since she is non-verbal, it has always been difficult to determine the... Read More
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... Read More
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),... Read More
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... Read More
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... Read More
