TY - JOUR
T1 - Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype
AU - Browne, P. C.
AU - Adam, S.
AU - Badr, M.
AU - Brooks, C. R.
AU - Edwards, J.
AU - Walker, P.
AU - Mohamed, S.
AU - Gregg, A. R.
N1 - Publisher Copyright:
© 2016 - IOS Press and the authors.
PY - 2016/6/22
Y1 - 2016/6/22
N2 - 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.
AB - 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.
KW - Cranio-facial anomalies
KW - Partial trisomy 10q chromosome
KW - microarray
KW - microcephaly
KW - pyelectasis
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U2 - 10.3233/NPM-16915109
DO - 10.3233/NPM-16915109
M3 - Article
C2 - 27197934
AN - SCOPUS:84976263009
SN - 1934-5798
VL - 9
SP - 217
EP - 222
JO - Journal of Neonatal-Perinatal Medicine
JF - Journal of Neonatal-Perinatal Medicine
IS - 2
ER -