Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype

Article type: Case Report

Authors: Browne, P.C.^a | Adam, S.^{a; *} | Badr, M.^a | Brooks, C.R.^b | Edwards, J.^b | Walker, P.^b | Mohamed, S.^c | Gregg, A.R.^d

Affiliations: [a] Georgia Regents University School of Medicine, Department of Obstetrics and Gynecology, Macon, GA, USA and NavicentHealth, Medical Center of Centeral Georgia (MCCG), Mercer University, Department of Obstetrics and Gynecology, Macon, GA, USA | [b] Department of Medical Genetics, University of South Carolina, SC, USA | [c] Department of Obstetrics and Gynecology, Manousa University, Egypt | [d] Department of Obstetrics and Gynecology, University of Florida, Gainesville, FL, USA

Correspondence: [*] Address for correspondence: Dr. Sarah Adam, Obstetrics and Gynecology Department, NavicentHealth, Medical Center of Centeral Georgia (MCCG), Mercer University, Macon, GA, USA. Tel.: +1 228 343 3914; Fax: +1 706 721 6211; E-mail: [email protected].

Abstract: Partial trisomy of the 10q region was originally reported in 1979 [1]. For 25 years, the diagnosis was made microscopically based on large, visible insertions in the region identified by karyotype analysis. Previous case reports have included both unbalanced translocations and large duplications/insertions in the 10q region [2]. Probands with partial trisomy 10q syndrome often have an abnormal phenotype that may include developmental delay [3–5], craniofacial abnormalities [3, 5], talipes (clubfoot) [2], microcephaly [2–4], or congenital heart disease [2–6]. Prenatal diagnoses by karyotype have been made following ultrasound diagnosis of sacrococcygeal teratoma [7], renal pyelectasis [3, 8–10], and other fetal abnormalities [4]. In this case, we report the first prenatal diagnosis of partial trisomy 10q (10q22.3–10q23.2) with a normal karyotype and an abnormal chromosomal microarray analysis (CMA). This is the smallest copy number variant (CNV) (7.5 Mb) in the 10q22.3–10q23.2 regions yet reported.

Keywords: Partial trisomy 10q chromosome, pyelectasis, Cranio-facial anomalies, microcephaly, microarray

DOI: 10.3233/NPM-16915109

Journal: Journal of Neonatal-Perinatal Medicine, vol. 9, no. 2, pp. 217-222, 2016