Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis

✍ Scribed by Wang, Hungshu ;McLaughlin, Margaret ;Thompson, Calvin ;Hunter, Alasdair G. W.

• Publisher: John Wiley and Sons
• Year: 1993
• Tongue: English
• Weight: 379 KB
• Volume: 46
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320460520

✦ Synopsis

A balanced complex chromosome rearrangement (BCCR) involving 3 chromosomes with 4 breakpoints, was identified in a 36-yr-old woman who was studied because her fetus was discovered to have an unbalanced reciprocal translocation (7q;lOq). Analysis of high resolution bands and the application of fluorescence in situ hybridization has identified the BCCR as dert7)t(7;1O)(q21.13;q23.33)ins(21; 7)(q21.3;q11.22q21.13), der(lO)t(7;lO)(q21.13; q23.331, der(2l)ins(21;7)(q21.3;ql1.22q21.13).

Alternate segregation of the BCCR appears to be favoured, and has resulted in two pregnancies with an unbalanced chromosome constitution. 0 1993 Wdey-Lisa, Inc.