PRENATAL DIAGNOSIS OF DE NOVO PERICENTRIC INVERSION INV(2)(p11.2z13)
Abstract:
We here report a prenatal case with de novo pericentric inversion inv(2)(p11.2q13). A 20-years-old G1PO woman was referred for amniocentesis at 17 weeks of gestation, because of a positive second trimester screening test for aneuploidy. A de novo pericentric inversion inv(2)(p11.2q13) was detected during conventional cytogenetic analysis. Array-CGH analysis of the fetus showed no subtle chromosomal imbalances at the breakpoints. Genetic counseling was given to the family and the family decided to continue the pregnancy. To our knowledge, our case is the third prenatally detected de novo case with inv(2)(p11.2q13), and also the first case in which molecular karyotyping analysis were also applied.
Related Concept Videos
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Meiosis I
Meiosis I
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
Nondisjunction
Nondisjunction
Nondisjunction


