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17q12 microdeletion syndrome. 17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17. It is typified by deletion of the HNF1B gene, resulting in kidney abnormalities and renal cysts and diabetes syndrome.
Smith–Magenis syndrome. Smith–Magenis syndrome ( SMS ), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.
3q29 microdeletion syndrome. 3q29 microdeletion syndrome. Other names. 3qter deletion, Monosomy 3q29. Chromosome 3 is associated with this condition. 3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. This syndrome was first described in 2005.
Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in infancy and continues into the early teen years. The disorder may be accompanied by autism, [1] mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low ...
According to the DSM-5-TR (2022), in order to receive a diagnosis of autism spectrum disorder, one must present with "persistent deficits in social communication and social interaction" and "restricted, repetitive patterns of behavior, interests, or activities." [3] These behaviors must begin in early childhood and affect one's ability to ...
Heritability of autism. The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis. Although the genetics of autism are complex, autism ...
Isodicentric 15, also called marker chromosome 15 syndrome, [2] idic (15), partial tetrasomy 15q, or inverted duplication 15 ( inv dup 15 ), is a chromosome abnormality in which a child is born with extra genetic material from chromosome 15. People with idic (15) are typically born with 47 chromosomes in their body cells, instead of the normal 46.
Dup15q syndrome is the common name for maternally inherited chromosome 15q11.2-q13.1 duplication syndrome. This is a genomic copy number variant that leads to a type of neurodevelopmental disorder, caused by partial duplication of the proximal long arm of Chromosome 15. This variant confers a strong risk for autism spectrum disorder, epilepsy ...