A Rare Mosaic Karyotype of 45,X/46,X,psu idic(Y)(p11.32)/46,XY with <b><i>SHOX</i></b> Haploinsufficiency, External Male Genitalia, and Short Stature

Abstract

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.

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

“…However, some researchers reported that a patient without AZF deletions demonstrated azoospermia possibly due to other Y chromosome structural abnormalities or mosaicism [54]. Yp11.32 also contains the short stature homeobox (SHOX) gene, which participates in the proliferation and differentiation of chondrocytes [55] and hence growth retardation in affected patients. Some patients showed features of Klinefelter syndrome resulting from extra Y chromosome material [31, 56, 57].…”