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What does jacobsen distal 11q deletion syndrome mean?
- Jacobsen Distal 11q Deletion Syndrome
- A clinically recognized malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Most patients have a THROMBOCYTOPENIA and platelet dysfunction known also as Paris-Trousseau type thrombocytopenia.
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"jacobsen distal 11q deletion syndrome." Abbreviations.com. STANDS4 LLC, 2024. Web. 3 May 2024. <https://www.abbreviations.com/jacobsen%20distal%2011q%20deletion%20syndrome>.
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