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Mosaic Down syndrome is a rare form of Down syndrome where only some cells have an extra copy of chromosome 21, resulting in a mix of normal and trisomic cells, often leading to milder or fewer symptoms compared to other forms, but it can still involve developmental delays, learning challenges, and associated health issues like heart defects or vision problems. Diagnosis involves genetic testing showing this cell mixture, and management focuses on therapies and addressing specific health needs.
What it is
Genetic makeup: People with mosaic Down syndrome have some cells with the typical 46 chromosomes and other cells with 47 chromosomes (an extra chromosome 21).
Prevalence: It accounts for about 2% of all Down syndrome cases.
Cause: It happens due to an error in cell division (mitosis) after fertilization, creating two cell lines.
Symptoms & characteristics
Symptoms vary widely but are often less severe because of the presence of normal cells.
Developmental: Delays in motor skills, speech, and communication.
Physical: May have some Down syndrome features, such as upward-slanting eyes, shorter stature, or a single palm crease, but often fewer.
Health Issues: Potential for heart defects, vision/hearing problems, sleep apnea, immune issues, and ear infections.
Diagnosis & management
Diagnosis: Confirmed by a chromosome study (karyotype) of blood cells, showing the mixture of normal and trisomic cells.
Management: Often involves therapies (speech, physical, occupational) and special education, though some individuals may not need intensive support.
Key takeaway
Each case is unique, and the percentage of cells with the extra chromosome influences the severity, making individual outcomes highly variable, but often more favorable than other forms of Down syndrome.