Today’s guest post on Monosomy 13q Syndrome is brought to you by the ever talented Maria Del Duca, M.S. CCC-SLP of Communication Station: Speech Therapy, PLLC, located in southern Arizona.
Overview: Also known as “13q Deletion Syndrome”, this is a chromosomal disorder that results in intellectual disabilities as well as congenital malformations of the skeleton, heart, brain and eyes. The causes of this syndrome can be hereditary or non-hereditary. When the long arm of chromosome 13 (labeled “q”) is missing/deleted or when both parts of chromosome 13 have been lost/deleted and have reconnected to form a ring (called “ring chromosome 13”), and the genetic mutation occurs before conception, during formation of the egg and sperm (gametes), this results in “monosomy 13q” (non-hereditary genetic mutation). However, there are times the cause is due to a parent carrier who passed down an inverted or translocated chromosome to the child subsequently resulting in a hereditary etiology. Risk of 13q Deletion Syndrome to occur in subsequent pregnancies is very low. If mother is the carrier, the risk is 10-15% and if the father is the carrier the risk is 2-4%. Continue reading Spotlight on Syndromes: An SPLs Perspective on Monosomy 13q Syndrome