In about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short-and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytogenetic abnormalities (numerical and structural) were detected in 22 (44.89%) specimens. Subsequent, array-CGH based on large insert clones spaced at 1 Mb intervals over the whole genome was used in 17 cases with normal G-banding karyotype. This revealed chromosome aneuplodies in three additional cases, giving a final total of 51% cases in which an abnormal karyotype was detected. In keeping with other recently published works, this study shows that array-CGH detects abnormalities in a further~10% of spontaneous abortion specimens considered to be normal using standard cytogenetic methods. As such, array-CGH technique may present a suitable complementary test to cytogenetic analysis in cases with a normal karyotype.

We report on a 15-year-old girl with mental retardation, obesity, short stature and minor anomalies. She had 47 chromosomes with a minute extra ring which was identified by FISH to be derived from chromosome 17.

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A leucemia promielocítica aguda (LPA) corresponde a 10% -15% das leucemias mielóides agudas (LMA). Este tipo de leucemia (LMA-M3 Palavras-chave: Leucemia promielocítica aguda; análise citogenética; hibridação in situ fluorescente (FISH). IntroduçãoA leucemia promielocítica aguda (LPA) ou LMA-M3, de acordo com a classificação FAB, corresponde a 10% -15% das leucemias mielóides agudas (LMA). Este tipo de leucemia apresenta morfologia celular característica com promielócitos anormais, núcleo excêntrico, abundantes granulações no citoplasma. Caracteriza-se também pela presença de múltiplos bastonetes de Auer no citoplasma, formando feixes, dando a estas células a denominação de "Faggot cells" (células com maços ou feixes). 1 Estudos de marcadores de superfície mostram que as células da LPA têm um padrão distinto quando comparado a outras LMAs. Ocorre alta expressão de antígenos mielomonocíticos (CD13, CD15 e CD33) e ausência de expressão de antígenos monocíticos (CD14, incluindo My4, Leu M3 e Mo2) e HLA-DR. 2,3,4 Em cerca de 90% dos casos, está associada à translocação t(15;17)(q22;q21), que resulta na