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Disorders on Chromosome 16
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Disorders on Chromosome 16
Citations
"CBFB." - Core-binding Factor, Beta Subunit. N.p., 25 Nov. 2013. Web. 29 Nov. 2013.
"Chromosome 16." - Genetics Home Reference. N.p., 25 Nov. 2013. Web. 29 Nov. 2013.
"A Locus for Paroxysmal Kinesigenic Dyskinesia Maps to Human Chromosome 16." A Locus for Paroxysmal Kinesigenic Dyskinesia Maps to Human Chromosome 16. N.p., n.d. Web. 29 Nov. 2013
"Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series : Figure 1." Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series : Figure 1. N.p., n.d. Web. 29 Nov. 2013.
"Acute Myelogenous Leukemia." Acute Myelogenous Leukemia. N.p., n.d. Web. 30 Nov. 2013.
"Workshop Report: 16p11.2 Deletions and Duplications." Simons Foundation Autism Research Initiative. N.p., n.d. Web. 30 Nov. 2013.
"Rubinstein-Taybi Syndrome." A DATABASE OF HEREDITARY OCULAR DISEASE. N.p., n.d. Web. 30 Nov. 2013.
Core Binding Factor Acute Myeloid Leukemia
A type of blood cancer that is associated with an inversion of a region on chromosome 16. This disorder can be found at 16q22.1. This cannot be inherited and affects only certain cells.
Rubinstein-Taybi Syndrome
Core Binding Factor Acute Myeloid Leukemia
Aveolar Capillary Displasia with Misallignment of Pulmonary Veins
16p11.2 Deletion Syndrome
When this disorder occurs there is deletion on the p arm of chromosome 16 which includes the gene CREBBP. This can cause failure to gain weight and grow at a typical pace and an increased risk of acquiring life threatening infections. Someone with Rubinstein-Taybi disorder may also show intellectual disabilities, distinctive facial features and broad thumbs and first toes
<--Gets rearranged
This affects the development of blood vessels in the lungs. The cause of this disease is deletion of the region known as 16q24.1. That region includes several genes including the foxf1 gene which makes the protein that helps regulate the development of the lungs.
Broad thumbs
This disorder is caused by deletion of 16p11.2 on the 16th chromosome. The genes that this affects are uncertain but researchers have found this disorder can cause delayed development, intellectual disabilitys, and developemental disorders like autism spectrum disorders.
CREBBP gene gets deleted
A portion of this arm gets deleted.-->
ACD/MPV
FOXF1 gene is getting deleted
<--this is getting deleted
Symbolizes Autism
This gets deleted-->