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Chromosome 4 Ring
Condition Overview: Chromosome 4 Ring is a rare disorder that is typically characterized by loss (deletion) of genetic material from both ends of the 4th chromosome and joining of the chromosomal ends to form a ring. Associated symptoms and findings may vary greatly, depending on the location of lost genetic material and/or other factors. Some affected infants may have a low birth weight; growth retardation; delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation); an abnormally small head (microcephaly); a broad, "beaked" nose; and/or various additional physical abnormalities that are present at birth (congenital anomalies). However, cases have also been reported in which Chromosome 4 Ring is primarily associated with growth retardation, with no major physical anomalies and normal psychomotor development. Chromosome 4 Ring is usually caused by spontaneous (de novo) errors very early in the development of the embryo that appear to occur randomly for unknown reasons (sporadically).. |
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