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- Das Potocki-Shaffer-Syndrom (englisch Potocki-Shaffer syndrome) ist ein sehr seltenes genetisch bedingtes Syndrom des Menschen, das verschiedene Veränderungen am Skelettsystem hervorruft. Ursache ist eine Chromosomenmutation mit Deletion mehrerer benachbarter Gene im Abschnitt 11p11.2 auf dem Chromosom 11. Synonyme in der anglo-amerikanischen Literatur sind chromosome 11p11.2 deletion syndrome, P11pDS und proximal 11p deletion syndrome. Die Störung als Syndrom wurde 1996 von L. Potocki und L. G. Shaffer erstbeschrieben. (de)
- Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, is a rare contiguous gene syndrome that results from the microdeletion of section 11.2 on the short arm of chromosome 11 (11p11.2). The syndrome has its name from Dr. Lorraine (Lori) Potocki and Dr. Lisa Shaffer who discovered the deletion on the 11th chromosome and studied the impacts. The deletion of this combination of genes results in several distinctive congenital features, occasional defects in the heart, kidneys, and urinary tract. The disorder is associated with an enlarged parietal foramina which can cause openings in the two bones that form the top and sides of the skull. These abnormal openings form extra "soft spots" on the head, in addition to the two that newborns normally have, and unlike the usual newborn soft spots, the enlarged parietal foramina remain open throughout life. Other signs can include multiple mostly noncancerous benign bone tumours called osteochondromas (exostosis), developmental delay, vision disorders and craniofacial abnormalities. It is classified as a rare disease. (en)
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- 5767 (xsd:nonNegativeInteger)
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- A young child whos' identity has been obscured with Potocki–Shaffer syndrome and showing the syndromes prominent forehead symptom (en)
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- Potocki–Shaffer syndrome (en)
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- Proximal 11p deletion syndrome, DEFECT11 syndrome (en)
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- Das Potocki-Shaffer-Syndrom (englisch Potocki-Shaffer syndrome) ist ein sehr seltenes genetisch bedingtes Syndrom des Menschen, das verschiedene Veränderungen am Skelettsystem hervorruft. Ursache ist eine Chromosomenmutation mit Deletion mehrerer benachbarter Gene im Abschnitt 11p11.2 auf dem Chromosom 11. Synonyme in der anglo-amerikanischen Literatur sind chromosome 11p11.2 deletion syndrome, P11pDS und proximal 11p deletion syndrome. Die Störung als Syndrom wurde 1996 von L. Potocki und L. G. Shaffer erstbeschrieben. (de)
- Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, is a rare contiguous gene syndrome that results from the microdeletion of section 11.2 on the short arm of chromosome 11 (11p11.2). The syndrome has its name from Dr. Lorraine (Lori) Potocki and Dr. Lisa Shaffer who discovered the deletion on the 11th chromosome and studied the impacts. (en)
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- Potocki-Shaffer-Syndrom (de)
- Potocki–Shaffer syndrome (en)
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- Potocki–Shaffer syndrome (en)
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