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Daughter with enlarged Y Chromosome 11

(3 Posts)
fortifiedwithtea Thu 15-Sep-11 00:23:17

DD2 is nearly 9. We've been with local hospital for years diagnosed GDD. Over the years speech and language delay, occupational therapy for lax ligaments. Slow to sit up,got referred to hospital for that and doctors locked on to the size of her small head. Spent a year trogging off to hospital 'cos they thought the bones in her skull had fused. Wrong she's just got a small head. She's on school action plus and is like a child about 2 years younger .Referred to GOSH for genetic testing. Now we have apt for Nov, DH and I been had blood tests. We have an older DD but wonder why she hasn't had a blood test? Anyone else in a similar situation or know anything about chromosome 11? This is my first posting so would be great to hear from anyone.

2011RWC Thu 15-Sep-11 01:15:26

Hi Fortifiedwithtea! My DS has undiagnosed GDD too!!

There might be someone along who has a knowledge of Chromosome 11 but in the meantime I suggest you contact Unique - the rare chromosome disorder support group!! They be able to provide you with information and put you in touch with families with the same chromosome abnormality.

Has the geneticist suggested that this is definitely the cause of your child's GDD. If yes, then they are probably testing you and DH to find out if it's inherited or DeNovo. If it is an inherited fault then they may decide to check your other DD to see if she is a carrier as she is not affected. If they have found this abnormality but are not sure if it's the cause then by testing you they may be able to decide if it is or not. For example if you have the exact same fault it is unlikely to be the cause because you are not affected. Basically they won't test your other DD until they know exactly what they're dealing with and if it's necessary.

There's also a project run by the Genetics Alliance called Syndromes Without A Name for families with undiagnosed conditions. Both Unique and SWAN have very active Facebook Groups

Links - - download a copy of the little yellow book

Email for more info on SWAN

fortifiedwithtea Thu 15-Sep-11 23:39:35

Hi 2011RWC thanks for your helpful post. The local paediatrian requested a huge blood test for DD2 to blitz for everything and was surprised chromo abnormality showed up. I'll check out the website you suggested, thanks for that.

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