Sex Dev. 2019;13(1):41-46. doi: 10.1159/000495201. Epub 2018 Dec 1.
In this case study, we describe a 3-year-old boy who was referred to the Inonu University Hospital with short stature complaint. His height was 86 cm (-2.96 SDS), weight was 12 kg (-2.43 SDS), and head circumference was 46.5 cm (-2.34 SDS). Chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and his parents and showed the patient's karyotype mos 45,X[20]/46,X,idic(Y)(p11.32)[29]/46,XY[1]. The karyotypes of the parents were normal. Subsequently, specific FISH probes were hybridized to the related regions of the sex-determining region Y (SRY), centromere X/Y (CEP X/Y), and short stature homeobox (SHOX) genes. Simultaneous SNP array-CGH was conducted. As to our knowledge, we present the first patient with mosaic isodicentric Y chromosome with 3 different cell lines and normal male external genitalia. Our results suggest that it would be beneficial to study cytogenetic and molecular cytogenetic methods together for better diagnostic accuracy and treatment.
在本病例研究中,我们描述了一名 3 岁男孩,因身材矮小到因努尼大学医院就诊。他的身高为 86 厘米(-2.96 SDS),体重为 12 公斤(-2.43 SDS),头围为 46.5 厘米(-2.34 SDS)。对患者及其父母的培养外周血淋巴细胞进行了染色体分析,显示患者的核型为 mos 45,X[20]/46,X,idic(Y)(p11.32)[29]/46,XY[1]。父母的染色体核型正常。随后,将特定的 FISH 探针与性别决定区 Y(SRY)、X/Y 着丝粒(CEP X/Y)和矮小同源盒(SHOX)基因的相关区域杂交。同时进行 SNP 微阵列-CGH。据我们所知,我们首次报道了一名具有 3 种不同细胞系的嵌合等臂 Y 染色体和正常男性外生殖器的患者。我们的结果表明,同时研究细胞遗传学和分子细胞遗传学方法将有助于提高诊断准确性和治疗效果。