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

P. C. Browne, S. Adam, M. Badr, C. R. Brooks, J. Edwards, P. Walker, S. Mohamed, A. R. Gregg

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)217-222
Number of pages6
JournalJournal of Neonatal-Perinatal Medicine
Volume9
Issue number2
DOIs
StatePublished - Jun 22 2016

Keywords

  • Cranio-facial anomalies
  • Partial trisomy 10q chromosome
  • microarray
  • microcephaly
  • pyelectasis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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