Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies

The Tohoku Journal of Experimental Medicine
Kento MorozumiKiyohide Sakai

Abstract

Campomelic dysplasia (CD) is a skeletal dysplasia characterized by shortened and bowed long bones, airway instability, the potential for disorders of sexual differentiation (DSD), and Pierre Robin Sequence (PRS) with cleft palate, midface hypoplasia and laryngotrachemomalacia. CD is caused by alterations in the Sex-determining region of the Y chromosome (SRY)-related-box 9 (SOX9), which has important roles in tissue and sexual differentiation. The SOX9 gene and the enhancer regions of SOX9 are located at chromosome 17q24.3. We report a 6-year-old phenotypically female referred to our department because of precocious puberty. The patient was born with Tetralogy of Fallot (TOF) and PRS. Skeletal X-ray examination showed only 11 pairs of ribs and bilateral bowed radiuses. Endocrine evaluations showed that increased levels of serum testosterone, and chromosomal analysis revealed a 46, XY, t(2;17)(p15;q24.2) karyotype. The patient was diagnosed with peripheral precocious puberty caused by over-secretion of testosterone by gonadoblastoma originating from dysgenetic gonads with Y-chromosome-related DSD. Multiple somatic abnormalities and DSD indicated that the patient might have CD. Laparoscopy revealed bilateral dysgenetic gonads, an...Continue Reading

References

Aug 10, 1999·American Journal of Medical Genetics·A SlavotinekH Kingston
Aug 10, 2002·Hormone Research·D I IlievH A Wollmann
May 14, 2014·European Journal of Medical Genetics·Lauren C Walters-SenCaroline Astbury
Jun 17, 2015·Türk Pediatri Arşivi·Kadri KaraerGerd Scherer
Dec 19, 2016·Pediatric Surgery International·Irene Kearsey, John M Hutson

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Citations

Feb 13, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Kaya NarimatsuTakanori Kobayashi

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