A relative of mine was just diagnosed with this karyotype, and we're having trouble finding any details on it. I've checked www.rarechromo.org and www.chromodisorder.org. I can find info on the 16p dup, but not with the 7q deletion.
She is 18, my mom's second cousin (does that make me her third cousin?). She has lived with my grandparents most of her life after her parents were killed in a car accident. She's always been special needs, but my grandmother was adamant about not testing her. She got the bare minimum of treatment and therapies (basically only what the school offered on her IEP). Now that she's 18, my mom petitioned for guardianship and has started looking into her health needs more thoroughly. Catherine is moderate MR, had severe scoliosis (they had to go in from the front and back to correct it, and she still has a significant curve), has speech issues, has always had really high white blood cell count but is *never* sick (like, never!), has facial hair, has a particular gait (hard to describe, but she walks differently), has fine motor issues...
My mom is working on gathering medical records and trying to piece together what she can now that she is in charge of Catherine. The geneticist was fully expecting Fragile X, and was surprised that the microarray showed anything. Mom has an appt with them next week where maybe she'll learn more.
She is 18, my mom's second cousin (does that make me her third cousin?). She has lived with my grandparents most of her life after her parents were killed in a car accident. She's always been special needs, but my grandmother was adamant about not testing her. She got the bare minimum of treatment and therapies (basically only what the school offered on her IEP). Now that she's 18, my mom petitioned for guardianship and has started looking into her health needs more thoroughly. Catherine is moderate MR, had severe scoliosis (they had to go in from the front and back to correct it, and she still has a significant curve), has speech issues, has always had really high white blood cell count but is *never* sick (like, never!), has facial hair, has a particular gait (hard to describe, but she walks differently), has fine motor issues...
My mom is working on gathering medical records and trying to piece together what she can now that she is in charge of Catherine. The geneticist was fully expecting Fragile X, and was surprised that the microarray showed anything. Mom has an appt with them next week where maybe she'll learn more.
And she's a social worker for disabled adults, so this is right up her alley. She's got Catherine on the waiting list for residential placement, in the state my mom works (Michigan) MR/DD adults can live in small group homes that are owned by the consumers. So Catherine will partially own the home that she will live in. She'll have full-time staff there 24/7. She'll also get a job in the community equal to her abilities (right now she's working at the nursing home in the laundry area, but mom is going to try to get her a different job placement because Catherine is very social and this is NOT a social job!)
