Structural Chromosomal Abnormalities Flashcards
1
Q
REC8
A
- *Trisomy for 8q22.1 (siince 8q22.1 got duplicated in meiosis)
- *Monosomy for 8p23.1 (8p23.1 got deleted)
- This is derived from inversion 8 carrier.
–46,XX or XY,inv(8)(p23.1q22.1)
What is the phenotype of a REC 8 infant?
- VSD= ventricular septal defect
- Hypertelorism (abnormal distance between the eyes), thin upper lip, wide face.
2
Q
Describe Paracentric Inversion:
A
They can be more difficult to detect than pericentric inversions.
- Under-ascertained
- Familial and sporadic-a few reported associated with disease
Examples: inv(11)(p13p15) and aniridia
Xp/q inversions and *Turner Syndrome anomalies
Abnormal products are either dicentric (two centromeres) or acentric fragment, both unstable.
