What does it mean when a person has a deletion of chromosome 2p21 and what does it affect?
My daughter was born 9 weeks early, on June 22, 2011. She is truly a miracle baby considering all that she has been through and overcome so far in her short little life.. She was in the NICU at Arkansas Children's Hospital for 6 weeks before she was able to come home with us; But even though shes home and healthy, I still have so many questions about her diagnosis..
We were told that she has a deletion of chromosome 2p21. Now, up until now the truth has been too much to handle so I've just tried to forget about all of her diagnosis and try to live a normal life.. But I'm to the point where I was some answers. If anyone can tell me any information about this chromosomal abnormality I would greatly appreciate it!
This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facialappearance.