RESUMO
OBJECTIVES: A preterm boy was born with multiple anomalies including cleft palate and ventricular septal defect. Chromosome analysis on a blood sample identified additional material within the long arm of chromosome 2. SETTING: The newborn was in the neonatal intensive care unit requiring tertiary care during his 22 days of life. RESULTS: A supplementary fluorescent in situ hybridization test was performed to confirm the extra chromosomal material was chromosome 2. Parents' chromosomes were normal, indicating a de novo duplication of 2q13q23. CONCLUSION: Comparison of this case with those in the literature suggests involvement of cleft palate of cases with duplication of 2q13.
Assuntos
Anormalidades Múltiplas/genética , Aneuploidia , Cromossomos Humanos Par 2 , Fissura Palatina/genética , Inversão Cromossômica , Coloração Cromossômica , Evolução Fatal , Duplicação Gênica , Humanos , Recém-Nascido , Cariotipagem , MasculinoRESUMO
A 69-year-old woman developed microgranular acute promyelocytic leukemia (APL-M3) 10 months after receiving adjuvant cyclophosphamide, doxorubicin, and paclitaxel for breast cancer. Replicate bone marrow aspirate karyotypes contained a translocation between the long arms of chromosomes 15 and 17, but not at breakpoints typical for APL. Fluorescence in situ hybridization paints and RARalpha/PML cosmid probes verified that the breakpoints on chromosomes 15 and 17 were proximal to both the PML and RARalpha genes; t(15;17)(q13;12). Although the patient received induction chemotherapy and a several month trial of all-trans retinoic acid (ATRA), there was no clinical improvement or hematological remission. We suspect that this patient developed postchemotherapy secondary APL with an atypical t(15;17), which rendered her leukemic cells unresponsive to ATRA therapy.
