Ring chromosome 16: a new case.
A 46,XX,r(16) "de novo" karyotype is reported in a 4 7/12-year-old girl. In spite of the mild cranio-facial dysmorphism without visceral malformations in r(16) patients, the proband's phenotype is similar to the other four previous case reports. This could support the hypothesis of a specific "r(16) syndrome".
II. Clinica Pediatrica, Università di Genova, Italy.
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Vianello
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Cottafava
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Bartoli
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Franzone
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Casazzava
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Gastaldi
D000015:Abnormalities, Multiple / Q000235:genetics*; D002478:Cells, Cultured; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008214:Lymphocytes / Q000648:ultrastructure; D011596:Psychomotor Disorders / Q000235:genetics; D012303:Ring Chromosomes; D012640:Seizures / Q000235:genetics