You Have an Inverted Chromosome
By Life and Love in the Petri Dish on May 21, 2012
Featured BlogHer Network Post
Editor's Note: Sometimes the challenges on the road to parenthood feel so overwhelming that we just want to give up. In this post, Mo at Life and Love in the Petri Dish shares what it was like to discover their egg donor was not a suitable candidate. -- AVF
Basically one piece of our donor's chromsome 9 is reversed end to end.
While we were waiting on word from the genetic counselor, we did our own research (of course, you knew we would) and we found that while this inversion (not sure if it is a paracentric or pericentric, or whether it matters) is considered a "minor" chromosomal rearrangement and doesn't correlate with abnormal phenotypes, that research also suggests (depending on which type):
Photo by Leslie Perry. (Flickr)
- a higher risk of spontaneous abortion in approximately 30% of those affected (and we need that like we need a hole in the head, frankly)
- potential abnormal ultrasonic findings on fetuses with this abnormality, including hydramnios, anhydramnios, hydroureter, hydronephrosis, encephalocele, and prune belly syndrome.
- that it is a potential cause of psychiatric disorders
reports of links to congenital genital malformation, mild growth retardation, malformations of the skull and facial (craniofacial) region, undescended testis, skeletal malformations, mental retardation, hermaphroditism, and/or cardiac defects
Read the rest of the post at Life and Love in the Petri Dish here.