Extreme thrombocytosis associated with transient myeloproliferative disorder with Down Syndrome with t(11;17)(q13;q21).
A female patient with Down Syndrome (DS) had neonatal thrombocytosis with platelet counts exceeding 2,000 x 10(3)/microL and transient myeloproliferative disorder (TMD). Platelet counts remained elevated the first 2 months of life. A translocation located between chromosomes 17 and 11 was observed. We describe a patient with thrombocytosis and TMD showing an 11q13 translocation. The leukocytosis and thrombocytosis improved after an exchange transfusion.
Park
Eun-Sil
ES
Department of Pediatrics, Gyeongsang National University College of Medicine, Republic of Korea.
Kim
So-Young
SY
Yeom
Jung-Suk
JS
Lim
Jae-Young
JY
Park
Chan-Hoo
CH
Youn
Hee-Shang
HS
D002880:Chromosomes, Human, Pair 11 / Q000235:genetics / Q000648:ultrastructure*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics / Q000648:ultrastructure*; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics; D005078:Exchange Transfusion, Whole Blood; D005260:Female; D005316:Fetal Distress / Q000150:complications; D005317:Fetal Growth Retardation; D006801:Humans; D000860:Hypoxia / Q000209:etiology / Q000628:therapy; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D007964:Leukocytosis / Q000150:complications / Q000151:congenital / Q000235:genetics / Q000628:therapy; D013922:Thrombocytosis / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000628:therapy; D014178:Translocation, Genetic