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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.
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 ...
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.
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 ...
The Autism Diagnostic Observation Schedule ( ADOS) is a standardized diagnostic test for assessing autism spectrum disorder. The protocol consists of a series of structured and semi-structured tasks that involve social interaction between the examiner and the person under assessment. The examiner observes and identifies aspects of the subject's ...
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.
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 ...