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Prenatal cytogenetic assessment and inv(2)(p11.2q13)
Meaghan Hysert1, Hélène Bruyère, Gilbert B Côté
1Pathology, Montreal Children's Hospital, 2300 Tupper St, Montreal, QC H3H 1P3, Canada.
Prenatal Diagnosis
|July 6, 2006
Summary
Most recurrent pericentric inversions, particularly inv(2)(p11.2q13), are inherited and benign. Parental karyotyping is often unnecessary for genetic counseling as these chromosomal findings are typically innocuous.
Area of Science:
- Genetics
- Cytogenetics
- Prenatal Diagnosis
Background:
- Recurrent pericentric inversions are chromosomal abnormalities.
- Euchromatic breakpoints in these inversions can have varying clinical significance.
- Prenatal detection necessitates understanding inheritance patterns and clinical outcomes.
Purpose of the Study:
- To report cases of prenatally detected recurrent pericentric inversions with euchromatic breakpoints.
- To review existing literature on these inversions.
- To assess the necessity of parental karyotyping for genetic counseling.
Main Methods:
- Collection of cases of recurrent pericentric inversions with euchromatic breakpoints from Canadian Cytogenetic Laboratories.
- Inclusion of specific inversions: inv(1)(p13q21), inv(2)(p11.2q13), inv(5)(p13q13), and inv(10)(p11.2q21.2).
- Literature review to supplement case data.
Main Results:
- Low incidence of de novo inv(2)(p11.2q13) (1 in 91 inversions).
- No de novo inv(10)(p11.2q21.2) reported in 17 cases.
- One de novo inv(5)(p13q13) reported in 21 cases.
Conclusions:
- Most inv(2)(p11.2q13) cases are stably inherited.
- De novo inv(2) cases are rare and typically without phenotypic or developmental consequences.
- Parental karyotyping for inv(2) may cause unnecessary anxiety and is not clinically useful for counseling.
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