Presentation
Individuals with 1q21.1 microdeletion present with development delays, limitations in brain functioning, physical anomalies, and psychiatric problems; however, in some cases the patients are asymptomatic. 1q21.1 duplication syndrome 1q21.1 duplication [news-medical.net]
Entire Body System
- Weakness
Muscle weakness and muscle atrophy are two characteristic features of this disorder. The condition affects muscles of the face, arms, and shoulders. In some cases, the muscles around the eyes may also be affected. [news-medical.net]
- Trisomy 21
Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci U S A. 1988 Dec;85(23):9138–9142. [ncbi.nlm.nih.gov]
Neurologic
- Seizure
Some common signs of this syndrome include distinctive facial features, delay in development, intellectual disability, seizures, vision and hearing problems, congenital heart defects, and renal abnormalities. [news-medical.net]
Epidemiology
Retinoblastoma: epidemiologic characteristics. New Engl. J. Med. 285, 307–311 (1971) Google Scholar Kempen, C. van. [link.springer.com]