Karyotype determination and reproductive guidance for short stature women with a hidden Y chromosome fragment  De-Hua Cheng, Fei Gong, Ke Tan, Chang-Fu Lu, Ge Lin, Guang-Xiu Lu, Yue-Qiu Tan  Reproductive BioMedicine Online  Volume 27, Issue 1, Pages 89-95 (July 2013) DOI: 10.1016/j.rbmo.2013.03.015 Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 Pedigree of family 1. Case 1=the female partner in family 1; Case 2=the son of case 1. Reproductive BioMedicine Online 2013 27, 89-95DOI: (10.1016/j.rbmo.2013.03.015) Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions

Figure 2 (A) Partial karyotypes from peripheral lymphocyte cultures showing normal X and Y chromosomes and the derivative X chromosome due to the translocation between Xp and Yq. (B) FISH images of the normal X and Y chromosomes and the derivative X chromosome from the peripheral lymphocyte cultures. (C) SNP array analysis of case 1 revealing an accurate determination of the breakpoint of X chromosome: 46,X,add(X)(p22), arr snp (X)(p22.33p22.31)(142,664–8,539,586)×1 (terminal 8.5Mb loss of Xp22.33p22.31). Case 1=the female partner in family 1; Case 2=the son of case 1; Case 3=the female partner in family 2. Reproductive BioMedicine Online 2013 27, 89-95DOI: (10.1016/j.rbmo.2013.03.015) Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions

Figure 3 Partial ideogram showing the normal X and Y chromosomes and the derivative X chromosome due to the translocation between Xp and Yq. Red (DYZ3, Yp11-q11), green (DXZ1, Xp11-q11) and aqua (DYZ1, Yq12) bands show the position and colour of the FISH probes used for preimplantation genetic diagnosis. (For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.) Reproductive BioMedicine Online 2013 27, 89-95DOI: (10.1016/j.rbmo.2013.03.015) Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions

Figure 4 Single blastomere triple-colour FISH analysis for the X and Y chromosomes in case 3. The probes targeted the centromere of the X chromosome (DXZ1, SpectrumGreen), the centromere of the Y chromosome (DYZ3, SpectrumOrange) and the long arm of the Y chromosome (DYZ1, SpectrumAqua, appearing as white). I and II represent the first and the second PGD cycle, respectively. I-E1 indicates the first embryo in the first PGD cycle, etc. In the first cycle, all three embryos showed abnormal hybridization signals. I-E1 was a monosomy X chromosome embryo. I-E2 was male embryo with der(X) and I-E3 was a trisomy X chromosome embryo with der(X). In the second cycle, II-E1 was a male embryo with der(X), II-E2 showed a female signal carrying the der(X), II-E3 was a male embryo with a normal hybridization signal and II-E4 was an embryo with irregular mitosis or aneuploidy. Reproductive BioMedicine Online 2013 27, 89-95DOI: (10.1016/j.rbmo.2013.03.015) Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions

Figure 5 The possible sex chromosome types of the embryos when an oocyte resulting from a 46,X,der(X)t(Xp;Yq) female is fertilized with a normal spermatozoon. Red, green and aqua colours represent DYZ3, DXZ1 and DYZ1 FISH probes, respectively. (A) Normal female embryo; (B) female embryo carrying der(X); (C) normal male embryo; (D) male embryo carrying der(X); (E) trisomy X embryo carrying der(X); (F) Klinefelter syndrome embryo carrying der(X); (G) Turner syndrome embryo; (H) X nullisomy embryo, which might be non-viable. (For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.) Reproductive BioMedicine Online 2013 27, 89-95DOI: (10.1016/j.rbmo.2013.03.015) Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions