RESEARCH LETTER Complex 9p Rearrangement in an XY Patient With Ambiguous Genitalia and Features of Both 9p Duplication and Deletion Vivian Alejandra Neira, 1,2 Carlos C ordova-Fletes, 3,4 * Yohann Grondin, 3,5 Azubel Ramirez-Velazco, 1 Luis E. Figuera, 1 Roc  ıo Ort  ız-L opez, 3,4 and Michela Barbaro 6 1 Divisi on de Gen etica, Centro de Investigaci on Biom edica de Occidente, CMNO-IMSS, Guadalajara, M exico 2 Doctorado en Gen etica Humana, Universidad de Guadalajara, Guadalajara, Jalisco, M exico 3 Unidad de Biolog  ıa Molecular, Gen omica y Secuenciaci on, Centro de Investigaci on y Desarrollo en Ciencias de la Salud, Universidad Aut onoma de Nuevo Le on, Monterrey, Nuevo Le on, M exico 4 Facultad de Medicina, Departamento de Bioqu  ımica y Medicina Molecular, Universidad Aut onoma de Nuevo Le on, Monterrey, Nuevo Le on, M exico 5 Facultad de Ciencias Biol ogicas, Universidad Aut onoma de Nuevo Le on, Monterrey, Nuevo Le on, M exico 6 Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden Manuscript Received: 9 December 2010; Manuscript Accepted: 2 February 2012 TO THE EDITOR: Here, we describe a patient with a de novo 9p complex rearrange- ment involving deletion and duplication presenting with dysmor- phic features, ambiguous genitalia, and developmental delay. The patient was the second child of a young non-consanguineous couple. At birth, weight, length, and Apgar scores at 1 and 5 min were 2,500 g (<3rd centile), 48 cm (10th centile), and 7 and 9, respectively. At 8 months of age the child had seizures and was diagnosed with West Syndrome. Physical examination at 17 months of age showed a large anterior fontanelle, prominent metopic ridge, low anterior hairline, highly arched eyebrows, downslanted palpebral fissures, blue sclerae, bulbous nose, short neck with redundant nuchal skin, bilateral short fifth fingers with radial clinodactyly, abnormal palmar creases, bilateral genu varum, and ambiguous genitalia with a genital tubercle of 1.5 cm in length, lateral folds with no signs of virilization, and non-palpable testes (Fig. 1A,B). The psychomotor development was delayed: the child could not walk and had no language development. Hormonal values were: LH 2.2 mIU/ml (1.24–8.62 mIU/ml), FSH 1.9 mIU/ ml (1.27–19.26 mIU/ml), basal estradiol 24 pg/ml (20–144 pg/ml), testosterone total 0.02 ng/ml (0.03–0.32 ng/ml), and 17 OHP 70 ng/ dL (11.00–170.00 ng/dL). Gonadal biopsy showed bilateral hypo- plastic prepuberal testicles, as well as a tubular formation with moderate inflammation corresponding to a left fallopian tube. The patient’s G-banded karyotype in 72 hr lymphocyte cultures was 46,XYqhþ,add(9)(p24),15pstkstk (Fig. 1C). At FISH analysis the SRY probe provided the expected signal on Yp (Fig. 1H); the subtelomeric probes (Vysis LSI SRY 32-190019 spectrum orange probe, Telvysion 9p 33-252009 spectrum green, WCP 9 33-122009 spectrum green probe, respectively) revealed a 9p24.3 deletion (Fig. 1F) while the whole chromosome 9 probe painted the com- plete derivative chromosome (Fig. 1D). Parental karyotypes were normal, being the father carrier of both Yqhþ and 15pstkstk heteromorphisms. An MLPA analysis was performed using two previously described synthetic probe sets, 9p24 and 9p-2, [Barbaro et al., 2009]. To the latter the new probe pair C9IGS13 (5 0 half Additional supporting information may be found in the online version of this article. Grant sponsor: CONACyT Scholarship; Grant sponsor: FOMIX; Grant number: M0014-2007-2010; Grant sponsor: PROMEP; Grant number: 103.5/11/4330; Grant sponsor: Stiftelsen Frimurare Barnhuset. *Correspondence to: Carlos C ordova-Fletes, PhD, Unidad de Biolog  ıa Molecular, Gen omica y Secuenciaci on, Centro de Investigaci on y Desarrollo en Ciencias de la Salud, Universidad Aut onoma de Nuevo Le on, Calle Dr. Carlos Canseco s/n, Colonia Mitras Centro, Monterrey, Nuevo Le on, M exico. E-mail: bunbury_cc@hotmail.com Article first published online in Wiley Online Library (wileyonlinelibrary.com): 11 May 2012 DOI 10.1002/ajmg.a.35344 How to Cite this Article: Neira VA, C ordova-Fletes F, Grondin Y, Ramirez-Velazco A, Figuera LE, Ort  ız-L opez R, Barbaro M. 2012. Complex 9p Rearrangement in an XY Patient With Ambiguous Genitalia and Features of Both 9p Duplication and Deletion. Am J Med Genet Part A 158A:1498–1502. Ó 2012 Wiley Periodicals, Inc. 1498