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. 2016 Sep 13;48(4):530–532. doi: 10.1002/uog.15965

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© 2016 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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UOG-15965-FIG-0002-c — Genetic analysis of 35‐week fetus with multiple structural anomalies. (a) Interphase fluorescence in‐situ hybridization using DiGeorge TBX1/22q13.3 DNA probe (Cytocell, Inc., Cambridge, England) revealed TBX1 duplication in 90% (45/50) of amniocytes examined (nuc ish 22q11.2 (TBX1×3)). (b) Array comparative genomic hybridization using CytoScan gene chip (Agilent customer design ID 040427, Changhua Christian Hospital, Changhua, Taiwan) demonstrated two segmental duplications involving 11q23.3q25 (18.14 megabases (Mb)) (arr[hg19] 11q23.3q25(116,723,438‐134,868,407)×3) and 22q11.1q11.21 (3.21 Mb) (arr[hg19] 22q11.1q11.21(17,096,855‐20,311,763)×3). (c) Karyotype analysis of amniocytes revealed a suspect reciprocal translocation (47,XX,t(11;22)(q23;q11.2),+der(22)t(11;22)(q23;11.2)) (arrows). (d) The appearance of the terminated fetus was grossly normal except for a bulbous nose (arrowhead).