A girl with an end-to-end fusion of two X's

✍ Scribed by C. Stoll; Ch. Lausecker; A. Pennerath

• Book ID: 104778260
• Publisher: Springer
• Year: 1979
• Tongue: English
• Weight: 566 KB
• Volume: 131
• Category: Article
• ISSN: 0340-6997
• DOI: 10.1007/bf00447477

✦ Synopsis

An abnormal large chromosome was seen in the karyotype of a 3-year-old girl with features of Turner's syndrome: i.e., short stature, cubitus valgus, coarctation of aorta. With the banding technics this abnormal chromosome appears to be the result of a fusion of two X chromosomes, short arm-to-short arm. This chromosome has two regions with C-heterochromatin and is late replicating.