Paris‐Trousseau syndrome platelets in a child with Jacobsen's syndrome

• Published in: American journal of hematology Vol. 66; no. 4; pp. 295 - 299
• Main Authors: Krishnamurti, L., Neglia, J.P., Nagarajan, R., Berry, S.A., Lohr, J., Hirsch, B., White, J.G.
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01.04.2001; Wiley-Liss
• Subjects: Abnormalities, Multiple - blood; Aortic Coarctation - genetics; Biological and medical sciences; blood platelet disorders; Blood Platelet Disorders - blood; Blood Platelet Disorders - genetics; Blood Platelets - pathology; Chromosome Aberrations - blood; Chromosome Aberrations - genetics; Chromosome Deletion; Chromosome Disorders; chromosomes, human, pair 11; Chromosomes, Human, Pair 11 - genetics; Chromosomes, Human, Pair 11 - ultrastructure; Cytoplasmic Granules - ultrastructure; growth disorders; Hematologic and hematopoietic diseases; Humans; Infant, Newborn; Intellectual Disability - genetics; Male; Medical sciences; Megakaryocytes - pathology; Platelet diseases and coagulopathies; psychomotor disorders; Syndrome; thrombocytopenia; Chromosomal aberration; Human; Thrombocytopenia; Clinical form; Male; Hemopathy; Electron microscopy; Genetic disease; Case study; Symptomatology; Newborn diseases; Platelet; Newborn; Alpha granule; Cytogenetics; Deletion; Abnormal chromosome; Genetics; Inclusion body; Abnormal chromosome C11; Psychomotor disorder
• ISSN: 0361-8609; 1096-8652
• DOI: 10.1002/ajh.1061

The thrombocytopenia in an infant with clinical features of Jacobsen's syndrome characterized by multiple congenital anomalies, cardiac defects, psychomotor retardation, and deletion of chromosome 11 at 11q23.3 has been evaluated. Study of his platelets in the electron microscope revealed giant alpha granules in his cells identical in appearance to those reported in the family with Paris‐Trousseau syndrome. As a result, the Paris‐Trousseau syndrome appears to be a variant of the Jacobsen syndrome, and the thrombocytopenia observed in all cases of chromosome 11q23.3 deletion due to dysmegakaryopoieses. Giant alpha granules are frequently observed in normal platelets during long‐term storage and may form in Jacobsen and Paris‐Trousseau platelets during prolonged residence in the bone marrow. Am. J. Hematol. 66:295–299, 2001. © 2001 Wiley‐Liss, Inc.