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Chromosome 13q-syndrome

[S] I work in an early-intervention program, and I am seeing a family whose 14-month-old son was recently diagnosed as having Chromosome 13q-syndrome. (This is a rare disorder in which part of the long arm of the 13th chromosome is missing. It is characterized by craniofacial malformations, limb abnormalities, poor growth, and psychomotor delays). The child is at increased risk for developing retinoblastomas (cancerous minors of the eye) before age 5 and osteosarcomas (cancerous tumors of the bone) after age 8. He has already had one retinoblastoma removed. The baby is globally delayed (functioning at about half his chronological age), but ...

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