Linked Life Data

Ring chromosome 4 syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0265407

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JABL: A syndrome in which parts of both ends of chromosome 4 have been lost (deletion) and the two broken ends reunited to form a ring-shaped figure. Clinical manifestations vary according to the breakpoints and their distance to the telomeres and include developmental delay and neurological, craniofacial, skeletal, genitourinary, and cutaneous anomalies, some of which overlap those of Seckel and Wolf-Hirschhorn syndromes.
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