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Dr. Andrew Rynne
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Dr. Andrew Rynne

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Exp 50 years

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What Would Be The Diagnosis For Extra Chromosome At 18 Q Arm?

hello doctor, im a pediatric occupational therapist today i seen a boy with dysmorphism and developmental delay he had been referred to genetic karyotyping and the result was extra chromosome at 18 q arm , what would be the diagnosis , how will be the prognosis/ thank you
Fri, 27 Jun 2014
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Radiologist 's  Response
Hi,
Thanks for writing in.

Rarely, trisomy 18 is caused by an extra copy of only a piece of chromosome 18. This condition is known as partial trisomy 18. This extra copy of some genes on q arm chromosome 18 disrupt the course of normal development, causing the characteristic features of trisomy 18 and the health problems associated with this disorder. The clinical features and prognosis are same as in trisomy 18.
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Note: For detailed guidance on genetic screening consult a genetics specialist
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What Would Be The Diagnosis For Extra Chromosome At 18 Q Arm?

Hi, Thanks for writing in. Rarely, trisomy 18 is caused by an extra copy of only a piece of chromosome 18. This condition is known as partial trisomy 18. This extra copy of some genes on q arm chromosome 18 disrupt the course of normal development, causing the characteristic features of trisomy 18 and the health problems associated with this disorder. The clinical features and prognosis are same as in trisomy 18.