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1-Mary and John want to have a second child. They have a 10-year-old with Down syndrome, and they have questions about the risks of having a second child with Down syndrome. Explain the risk for the
1-Mary and John want to have a second child. They have a 10-year-old with Down syndrome, and they have questions about the risks of having a second child with Down syndrome.
Explain the risk for the development of Down syndrome and the recurrence risk in a second pregnancy.
2-Fill in the Punnett squares on this document for cystic fibrosis (both parents are carriers) and Marfan syndrome (one parent is affected and one is unaffected) and discuss the gender distribution, risks of being a carrier, or affected. Discuss risks for subsequent births.
3- My professional reflection is on Down syndrome. Provide a thoughtful reflection on all required question(s).
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* **** of ****** * Second Child **** Down ************ **** *** John ******** ****** * ****** child ** ** crucial ** ********** *** ***** ** having ******* ***** **** Down syndrome **** ******** **** ***** ** trisomy ** ** a genetic ********* ****** ** the ******** ** ** ***** **** ** ********** ****** for *** *********** ** **** ************ risk ** having a ***** **** **** syndrome ********* with ******** *** *** instance ** *** ** *** risk is ************* 1 ** 1200 ******* at *** ** ** is ***** * ** 350 ** *** 40 *** risk ** ******* * in *** and ** age ** ** ** ****** * in ** However ** ** ********* to note that **** babies with **** ******** *** **** ** ***** under ** simply ******* **** have **** babiesRecurrence Risk ** * ****** ************* ********** **** ******* ** the ******** circumstances ** *** ***** ***** with **** ******** **** an isolated case ******** there **** no underlying ******* ******* identified ** the ******** *** **** *** *** second ***** ***** ** ******* ** *** *********** **** ******* *** **** ***** ** ****** ** ***** *** ********** ******* ******** ******* ******* *** Cystic ******** and ****** SyndromeCystic ******** ***** ******* *** ********** Cystic fibrosis ** ** autosomal recessive ******* ******** Both parents **** ***** * ******* CFTR gene *** * ***** ** ** ******** * ******* allele) c ******** ******** ******* ******* ** (normal) ** ********** ******** allele) ** (carrier) ** **************** Distribution: ****** fibrosis is ********* ** ****** ** *** gender ************ would ** ********* of ***** a ********** **** ******* *** ******** ***** is * 25% ****** ** having ** ******** child a 50% chance of ****** * ******* ***** and * *** chance ** having * ***** without the ************** Syndrome (One ****** is ******** one ** Unaffected):Marfan syndrome ** an autosomal dominant ******* ******** * ***** has * *** ****** ** ********** *** ********* ** *** ****** ** ******** * ********** m ************* ********** ** ********** ** *********** ************ ** ********** ** ****************** ******************* ******** ** *** linked ** ****** so the ****** distribution ***** ** ********* *** Subsequent ********* one parent ** ******** **** child *** * 50% ****** ** ********** ****** ********* ************ ********** on **** ********** *********** **** **** ******** *** **** * *********** ********* ********* *** I might interpret **** ********** ********* *** its ****** ** ****** *** ******** ******* **** *********** * *** ********* *********** **** ****** revealing ******* **** *** intricacies *** difficulties ***** **** Down syndrome ************* of Understanding:Initially ** ************* of **** syndrome *** ********* ******* ******** ** the ******* ***** and physical *************** ********** **** trisomy ** However ******* deeper **** **** ***** *** ******** *** rich ********* ****** the **** ******** ********* **** individual ********* unique ********* ********* *** ************* that extend far ****** their ******* makeup This realization *** ********** the importance ** *************** **** *** *********** *** **** ******** of potential ****** those with **** ************** *** ********* *********** ** *** **** ******** revelations *** **** the ******* ****** *** emotional ******* **** *********** with Down ******** *** ***** ******** navigate While there is *********** joy *** **** ***** are ********** ******* ** ******** *********** inclusion *** ************* ********** ***** ****** requires * ************ ******** **** *********** medical ******* *** advocacy *** ********* education ********** ************* *** ********* ********************* ***************** of children **** **** syndrome exemplify remarkable ********** **** *** ********** However **** **** **** ****** ********* and ************* Providing ******** ******* ******** offering medical ********* and ********* *** creating ****** *** emotional ******* *********** sharing *** ********* ******** ********** ******** **** ********* *** ********** **** ** ******* ******** *** significantly ******* ***** ******* ** ******** *** ************ of ******* * ***** with **** ******************** and Future **************** ********* *** ******** **** Down ******** have ***** *********** results ***** is ******* ********* about improving *** ***** ** people **** Down syndrome from specific ********* to ********* ************* ** addition ******** *** ********* ********** **** ******* more ********* communities ***** people with **** syndrome *** ***************** ********** my ****** ********** on **** ******** has **** ************** ** has built ** *** ************ of ** **************** ****************** *** ** **** with **** ********** all ********** exceptional ********** *** expectations ******* ** *** *********** *** ******* ** ********** ******** *** pushing for * more ************* ******* As ** ******** in *** ************* *** ********* of **** syndrome I ** hopeful about the ******** ****** ** *** **** on ***** impacted ** this conditionReferencesAntonarakis * * Skotko * * Rafii * * ******* * **** * * Bianchi * * ***** Reeves * * ****** **** syndromeNature ******* ******* Primers6(1) 9Bull M * (2020) **** *********** ******* ******* ** Medicine382(24) *********