Rubinstein-taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis.
Torres
Leuridan Cavalcante
LC
de Lourdes Lopes Chauffaille
Maria
M
Delboni
Thomaz Pileggi
TP
Okay
Thelma Suely
TS
Carneiro-Sampaio
Magda
M
Sugayama
Sofia
S
D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005260:Female; D006098:Granulocytes / Q000473:pathology*; D006801:Humans; D019891:Leukopoiesis; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D055815:Young Adult