Presentation
[…] disability ; delayed or absent speech; behavioral abnormalities; and seizures .[1][2] Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition.[3][1] Treatment is based on the signs and symptoms present [rarediseases.info.nih.gov]
Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. [alicenova.it]
Entire Body System
- Disability
Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral [rarediseases.info.nih.gov]
The main characteristics of Angelman syndrome are severe intellectual disability, ataxia, lack of speech, and excessively happy demeanor. [14] Signs and symptoms of autism (a developmental disorder that affects communication and social interaction) have [alicenova.it]
- Developmental Delay
Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral [rarediseases.info.nih.gov]
You can help advance Other changes in the number or structure of chromosome 15 can cause developmental delays, delayed growth and development, hypotonia, and characteristic facial features. The patient possesses an "extra" or "marker" chromosome. [alicenova.it]
- Epilepsy
Karyotype assessment is important to consider in all epilepsies where the etiology is uncertain as dysmorphic features may be subtle or not apparent. [alicenova.it]
- Developmental Disorder
The main characteristics of Angelman syndrome are severe intellectual disability, ataxia, lack of speech, and excessively happy demeanor. [14] Signs and symptoms of autism (a developmental disorder that affects communication and social interaction) have [alicenova.it]
Musculoskeletal
- Long Arm
Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. [alicenova.it]
Treatment
Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. [rarediseases.info.nih.gov]
Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. [alicenova.it]