Hysert Meaghan, Bruyère Hélène, Côté Gilbert B, Dawson Angelika J, Dolling Jo-Anna, Fetni Raouf, Hrynchak Monica, Lavoie Josée, McGowan-Jordan Jean, Tihy Frédérique, Duncan Alessandra M V
Pathology, Montreal Children's Hospital, 2300 Tupper St, Montreal, QC H3H 1P3, Canada.
Prenat Diagn. 2006 Sep;26(9):810-3. doi: 10.1002/pd.1508.
To present a series of prenatally detected cases of recurrent pericentric inversions with euchromatic breakpoints and to review the literature to determine whether parental karyotyping is required for genetic counselling.
Cases of recurrent pericentric inversions with euchromatic breakpoints were collected from Canadian Cytogenetic Laboratories. Cases included inversions for chromosome 1(p13q21), chromosome 2(p11.2q13), chromosome 5(p13q13) and chromosome 10(p11.2q21.2).
The incidence of de novo inv(2)(p11.2q13) was low, with one case among 91 inversions. There were no cases of de novo inv(10) (p11.2q21.2) among 17 reported and one case of de novo inv(5)(p13q13) among 21 reported.
Our study, and data from the literature, suggests that most cases of inv(2)(p11.2q13) have been stably inherited, that de novo cases of inv(2) are rare and that both inherited and de novo forms are without phenotypic or developmental consequences. We suggest that parental karyotyping for cases of inv(2) is not useful in counselling as it may generate unnecessary parental anxiety over a chromosomal finding that is likely innocuous.
呈现一系列产前检测出的具有常染色质断点的复发性臂间倒位病例，并回顾文献以确定遗传咨询是否需要进行父母核型分析。
从加拿大细胞遗传学实验室收集具有常染色质断点的复发性臂间倒位病例。病例包括1号染色体（p13q21）、2号染色体（p11.2q13）、5号染色体（p13q13）和10号染色体（p11.2q21.2）的倒位。
新发inv(2)(p11.2q13)的发生率较低，在91例倒位中有1例。在报告的17例中没有新发inv(10)(p11.2q21.2)病例，在报告的21例中有1例新发inv(5)(p13q13)病例。
我们的研究以及文献数据表明，大多数inv(2)(p11.2q13)病例是稳定遗传的，新发inv(2)病例很少见，并且遗传型和新发型均无表型或发育后果。我们建议，对于inv(2)病例进行父母核型分析对咨询并无帮助，因为这可能会因一个可能无害的染色体发现而给父母带来不必要的焦虑。
