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microcephalysupportgroup · Microcephaly Support Group - For families of microcephalic children and adults
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Jazmine has a Microduplication on chromosome 22   Message List  
Reply | Forward Message #669 of 766 |
Re: Jazmine has a Microduplication on chromosome 22

--- In microcephalysupportgroup@yahoogroups.com, "Heather Robinson"
<anderson8738@...> wrote:
>
> Microduplication on chromosome 22 is very rare and jazmine doesnt
> resemble many that have the abnormality. There is actually only 13
> reported in the world with the abnormality. Her condition includes,
her
> Macular, and retinal folds, finger contractures, high arched
palate,
> microcephaly, abormalities on her big toe, her birth marks, ear
pit,
> and heart murmuer. there may be more, she's not crawling and she is
> almost a year old, no babbling either though she does make sounds.
her
> head circumfrance is 42cm from 29 when she was born but she is
still
> very microcephalic. I am nervous to find if her head has grown at
her
> 12 month check up.
> All interesting news but no answers and by the looks of it, there
wont
> be. But hay, she is happy with mommy, beautiful, she laughs, she
cries,
> she smiles and for all of this I am thankful.
>My daughter is 19 and still has no firm diagnosis, her head is very
microcephalic and she has a few dysmorphic disorders , however after
saying all this she is happy, bubbly, beautiful and funny. Talented
at sports despite the fact that she didn't walk until she was four
years old and has basically proved all doctors wrong. She is an
absolute gem!





Thu Jun 5, 2008 8:44 am

joannelewis27
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Message #669 of 766 |
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Microduplication on chromosome 22 is very rare and jazmine doesnt resemble many that have the abnormality. There is actually only 13 reported in the world with...
Heather Robinson
littlemom056
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Jun 5, 2008
4:08 am

... her ... palate, ... pit, ... her ... still ... her ... wont ... cries, ... microcephalic and she has a few dysmorphic disorders , however after saying all...
joannelewis27
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Jun 5, 2008
8:44 am

Thank you, that was reassuring. I know her eye condition will affect her significantly but I love hearing others stories, it gives me hope. Other than the...
Heather Robinson
littlemom056
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Jun 5, 2008
3:04 pm
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