Ring 11 chromosome (46,XX,r11(p15q25)) |
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Authors: | Valente Mario Muller Helga Sparkes Robert S. |
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Affiliation: | (1) Department of Psychiatry, UCLA Center for the Health Sciences, 90 024 Los Angeles, CA, USA;(2) Department of Medicine, UCLA Center for the Health Sciences, 90 024 Los Angeles, CA, USA;(3) Department of Pediatrics, UCLA Center for the Health Sciences, 90 024 Los Angeles, CA, USA |
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Abstract: | Summary A girl has a stable ring chromosome 11, which does not reveal loss of any chromosomal material. She demonstrates small stature, mild retardation, behavior problems, mild abnormal EEG, prominent sole furrows, increased deep tendon reflexes and hypothyroidism; this latter condition may have contributed to her retardation. |
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