Institute of Hereditary Pathology, National Academy of Medical Sciences of Ukraine, Lviv 79008, Ukraine.
Communal Noncommercial Enterprise of Lviv Regional Council "Western Ukrainian Specialized Children's Medical Centre", Lviv 79035, Ukraine.
Exp Oncol. 2020 Dec;42(4):333-336. doi: 10.32471/exp-oncology.2312-8852.vol-42-no-4.15275.
Turner syndrome (TS) is a chromosomal condition that affects development in females. The case of TS in the mother whose child was diagnosed with acute leukemia at the age of 1.5 years is presented. FANCI gene in child was detected among 94 genes associated- with hematologic malignancies. Acute lymphoblastic leukemia, common-B ІІ, L1, associated with t(12;21)(p13;q22), TEL/AML1 (ETV6/RUNX1) in a child was detected during a prophylactic examination. During the treatment of the baby, the mother had a second pregnancy, which ended in miscarriage at 8 weeks. Upon cytogenetic examination in the mother TS was revealed - mos45,Х[23]/46, ХХ[7], and the father's karyotype was without abnormalities (46, ХУ). After chemotherapy, the child is in clinical-hematological remission. It could be suggested that chromosomal abnormalities in mother with TS may cause the chromosomal instability and hematological malignancy in offspring.
特纳综合征（TS）是一种影响女性发育的染色体疾病。本文报告了一例母亲患有 TS，其 1.5 岁的孩子被诊断为急性白血病的病例。在与血液恶性肿瘤相关的 94 个基因中，检测到患儿存在 FANCI 基因。在预防性检查中发现患儿患有急性淋巴细胞白血病，普通 B 型 II，L1，伴有 t（12;21）（p13;q22），TEL/AML1（ETV6/RUNX1）。在婴儿治疗期间，母亲怀了第二胎，但在 8 周时流产。对母亲进行细胞遗传学检查显示 TS-mos45，Х[23]/46，ХХ[7]，父亲的核型无异常（46，ХУ）。化疗后，患儿处于临床血液学缓解期。由此可以推测，患有 TS 的母亲的染色体异常可能导致后代的染色体不稳定和血液恶性肿瘤。
