Chat du sex
Down syndrome is the result of an extra, third copy of chromosome 21 being present in a person.This extra chromosome results in extra protein production and upsets the body’s balanced systems.Cri du chat syndrome is caused by a missing piece of chromosome 5.This missing part is called a "deletion." The deletion can be of varying sizes, resulting in different symptoms.The symptoms of cri du chat syndrome vary from case to case.
NORD gratefully acknowledges Scott Pentiuk MD, Assistant Professor of Pediatrics, Cincinnati Children's Hospital Medical Center, and Adam Mezoff, MD, Professor of Pediatrics, Cincinnati Children's Hospital Medical Center, for assistance in the preparation of this report.Additional symptoms affecting different organ systems of the body can also occur.Most cases are thought arise from spontaneous (de novo) genetic errors very early in embryonic development.A deletion occurs when a DNA molecule in the chromosome of either the egg or the sperm breaks in the development stage, before fertilization occurs.The breakage is so rare that a parent is not likely to have another child with the same chromosomal abnormality.
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Introduction The disorder was first described in the medical literature in 1963 by doctor Lejeune who named the disorder after the distinctive cat-like cry.