Clinical Genetics
Genetic analysis of a case with mosacism of a small supernumerary marker chromosome derived from idic (15)
Shao Minjie, Wang Yun, Zhao Nan, Liu Ping
Published 2022-01-10
Cite as Chin J Med Genet, 2022, 39(1): 85-88. DOI: 10.3760/cma.j.cn511374-20200626-00475
Abstract
ObjectiveTo determine the origin of a mosaic small supernumerary marker chromosome (sSMC) by cytogenetic and molecular analysis.
MethodsKaryotype analysis, fluorescence in situ hybridization (FISH) and SNP-array were carried out.
ResultsThe karyotype of the patient was mos47, XX, + mar[45]/48, XX, + 2mar[3]/46, XX[52], the SNP-array result was arr[hg19]15q11.1q11.2 (20 161 372-24 314 675)×3, and the repeat fragment was about 4.15 Mb. FISH showed that approximately 50% of the cells have contained a sSMC with double D15Z1 probe site segments derived from abnormal idic(15). This sSMC did not contain SNRPN and PML probe fragments of Prader-Willi syndrome/Angelman syndrome.
ConclusionWhen the patient’s karyotype and phenotype are inconsistent, cytogenetic and molecular biology technologies should be combined to clarify the karyotype and gene location, so as to provide more accurate genetic consultation for the follow-up treatments.
Key words:
Cytogenetics; Single nucleotide polymorphism array; Fluorescence in site hybridization; Small supernumerary marker chromosome
Contributor Information
Shao Minjie
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, National Clinical Research Center for Obstetrics and Gynecology
Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education
Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China
Wang Yun
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, National Clinical Research Center for Obstetrics and Gynecology
Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education
Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China
Zhao Nan
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, National Clinical Research Center for Obstetrics and Gynecology
Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education
Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China
Liu Ping
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, National Clinical Research Center for Obstetrics and Gynecology
Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education
Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China
