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Jacobsen syndrome 
Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11
Jacobsen syndrome patient.JPG
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Instance of rare disease,
developmental defect during embryogenesis
Subclass of syndromic constitutional thrombocytopenia,
ptosis,
partial deletion of the long arm of chromosome 11
Discoverer or inventor
  • Petra Jacobsen
Authority control
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Sindrom Jacobsenove (sl); Syndrome de Jacobsen (fr); Zespół Jacobsena (pl); Syndroom van Jacobsen (nl); sindrome di Jacobsen (it); Síndrome de Jacobsen (es); Jacobsen-Syndrom (de); 제이콥슨 증후군 (ko); Jacobsen syndrome (en); متلازمة جاكوبسن (ar); 雅各布森綜合症 (zh); Jacobsenin oireyhtymä (fi) Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11 (en); autosomal vererbte Erkrankung (de); rara malattia congenita (it) Partial 11Q Monosomy Syndrome, JBS, JACOBSEN SYNDROME, Distal monosomy 11q, Chromosome 11Q Deletion Syndrome, Distal deletion 11q, Monosomy 11qter, JACOBSEN SYNDROME; JBS, Del(11)(qter), Telomeric deletion 11q, 11q Terminal Deletion Disorder, Del(11)(q23.3) (en); Sindrome de Jacobsen (es); Syndrome de jacobsen (fr); Jacobsenin syndrooma (fi)

Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1.

Media in category "Jacobsen syndrome"

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