一名患有唐氏综合征的儿童患急性髓细胞白血病，伴有6号染色体臂间倒位。

Acute myeloblastic leukemia with a pericentric inversion of chromosome 6 in a child with Down syndrome.

作者信息

Shekhter-Levin S, Mirro J, Penchansky L, Sherer M E, Wald N, Gollin S M

机构信息

Department of Human Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh, Pennsylvania.

出版信息

Cancer Genet Cytogenet. 1994 Apr;73(2):157-60. doi: 10.1016/0165-4608(94)90201-1.

DOI:10.1016/0165-4608(94)90201-1

PMID:7986260

Abstract

Cytogenetic analysis of bone marrow cells demonstrated a pericentric inversion of chromosome 6 when acute myeloblastic leukemia (AML) was diagnosed in a 15-month-old child with Down syndrome. The abnormal clone with inv(6)(p24q16) was associated with FAB-M1 AML and disappeared when a complete remission was achieved. This is a unique cytogenetic abnormality for FAB-M1 AML in a child with Down syndrome and, to our knowledge, is only the second case of a pericentric inversion of chromosome 6 reported in AML.

摘要

对一名15个月大的唐氏综合征患儿诊断为急性髓细胞白血病（AML）时，对其骨髓细胞进行的细胞遗传学分析显示6号染色体发生了臂间倒位。带有inv(6)(p24q16)的异常克隆与FAB-M1 AML相关，在达到完全缓解时消失。这是唐氏综合征患儿FAB-M1 AML中一种独特的细胞遗传学异常，据我们所知，这仅是AML中报道的第二例6号染色体臂间倒位病例。