患有复发性流产病史的儿童和母亲均存在罗伯逊易位和平衡易位。
Robertsonian and Balanced Reciprocal Translocation in Both Child and Mother with a History of Recurrent Abortions.
作者信息
Poornima Subhadra, Daram Swarnalatha, Krishna Rama, Hasan Qurratulain
机构信息
Department of Genetics and Molecular Medicine, Kamineni Hospitals, L.B. Nagar, Hyderabad, India.
Department of Genetics and Molecular Medicine, Kamineni Life Sciences, Moulali, Hyderabad, India.
出版信息
J Reprod Infertil. 2020 Jan-Mar;21(1):65-67.
BACKGROUND
Similar rare Robertsonian and balanced reciprocal translocation in both child and mother with a history of multiple miscarriages in the first trimester was the motive to write this case report. Cytogenetic analysis helps in genetic counselling of infertility, BOH and dysmorphology which in turn helps in pre implantation genetic testing. Although many case reports have already been published about Robertsonian and balanced translocations, this is the first case report in India which showed both types of translocation in the same patient, rob (13;14) and t (4;7). Interestingly, in the same patient, same translocations were also identified in the mother and father having no chromosomal abnormalities.
CASE PRESENTATION
Proband with dysmorphology was refered first for karyotyping and later parental karyotyping was performed.
CONCLUSION
Cytogenetic analysis plays an important role in the diagnosis and management of disease along with prenatal screening.
背景
患儿及其母亲均出现罕见的罗伯逊易位和平衡易位，且母亲有孕早期多次流产史，这成为撰写本病例报告的动机。细胞遗传学分析有助于不孕、反复自然流产（BOH）和畸形的遗传咨询，进而有助于植入前基因检测。尽管已经发表了许多关于罗伯逊易位和平衡易位的病例报告，但这是印度首例在同一患者中同时显示两种类型易位（rob(13;14)和t(4;7)）的病例报告。有趣的是，在同一患者中，其父母无染色体异常，但也发现了相同的易位。
病例介绍
首先对患有畸形的先证者进行核型分析，随后进行了父母核型分析。
结论
细胞遗传学分析在疾病的诊断和管理以及产前筛查中起着重要作用。
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