Direct and inverted reciprocal chromosome insertions between chromosomes 7 and 14 in a woman with recurrent miscarriages

✍ Scribed by Wang, Ying-Tai ;Bajalica, Svetlana ;Han, Fei-Yu ;Wang, Zhao-Cai ;Bui, The-Hung ;Xie, Ya-Gang

• Book ID: 102702401
• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 538 KB
• Volume: 52
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320520319

✦ Synopsis

W e present the first case of direct and inverted reciprocal chromosome insertions between human chromosomes 7 and 14, ascertained because of repeated spontaneous abortions. Prometaphase GTG banding analysis showed the karyotype to be 46, XX, inv ins (7;14)(7pter+7ql1.23::14q32.2+14q 22::7q21.2+7qter), dir ins(14;7)( 14pter+14q 22::7q11.23+7q21.2::14q32.2+14qter).

Origins of the insertion have been confirmed by chromosome painting with libraries specific for chromosomes 7 and 14 using fluorescence in situ hybridization.