Turner syndrome phenotype with 47,XXX karyotype: Further investigation warranted?

✍ Scribed by Wallerstein, Robert ;Musen, Erica ;McCarrier, Julie ;Aisenberg, Javier ;Chartoff, Amy ;Hutcheon, R. Gordon ;Tepperberg, James ;Pappenhausen, Peter ;Griffin, Sharon

• Publisher: John Wiley and Sons
• Year: 2004
• Tongue: English
• Weight: 32 KB
• Volume: 125A
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.a.20362

✦ Synopsis

Approximately 1 of every 1000 newborn girls has a 47,XXX karyotype . Clinical features shared by these girls may include tall stature, learning disabilities, and psychosocial issues . This is quite different from Turner syndrome, which occurs in approximately 1 in 3000 newborn girls and has a phenotype of neck webbing, short stature, and gonadal dysgenesis . We had the opportunity to care for two children who presented with short stature and clinical features of Turner syndrome and who had non-mosaic 47,XXX karyotypes on blood chromosome analysis with 45,X/46,XX/47,XXX mosaicism in buccal mucosa with FISH analysis or fibroblasts. We therefore suggest that individuals who have the clinical features of Turner syndrome with a 47,XXX lymphocyte karyotype deserve further evaluation with buccal mucosa FISH analysis or fibroblast studies.

Patient 1 was the 2,806 g product of a full-term uncomplicated pregnancy. At age 7 years 6 months, height was 113 cm (3rd centile). Physical examination was notable for broad hands and broad neck, which in combination with her short stature, suggested the diagnosis of Turner syndrome. Chromosome analysis from 50 peripheral blood cells revealed a 47,XXX karyotype. Due to the discrepancy between clinical presentation and karyotype, a swab of buccal epithelial cells was obtained for FISH analysis with bicolor X (DXZ1 Xred signal) and Y (DYZ3 Y-green signal) DNA specific probes and yielded a result of 47,XXX [69]/45,X[26]/ 46,XX[9] mosaicism.

Patient 2 was the 2,778 g product of a full-term pregnancy. A heart murmur noted in the neonatal