Trisomy 18: What is the Genetic Disorder Affecting Rick Santorum's Daughter?

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Trisomy 18: What is the Genetic Disorder Affecting Rick Santorum's Daughter?

Trisomy 18 has been popular in the news lately because it's affecting Rick Santorum's daughter Bella. But, what is it exactly?.

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    Trisomy 18: What is the Genetic Disorder Affecting Rick Santorum's Daughter?

    Trisomy 18 has been popular in the news lately because it's affecting Rick Santorum's daughter Bella. But, what is it exactly?

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    ഒരു വൃക്ക കാലിൽ, അത്ഭുതമായി റോബിൻസൺ

    അപൂർവമായി കണ്ടെത്തിയ ഇൗ ജനിതക അവസ്ഥക്ക് ഡോക്ടർമാർ ‘ഹാമിഷ് സിൻഡ്രോം’ എന്ന് പേര് നൽകി ഗവേഷണം തുടരുകയാണ്

    ജനിതക തകരാറിനെ തുടർന്ന് തുടക്കുള്ളിൽ ഒരു വൃക്കയുമായി ജനിച്ച 10 വയസ്സുകാരൻ വൈദ്യശാസ്ത്രത്തിന് അത്ഭുതമാവുന്നു. മാഞ്ചസ്റ്ററിലെ ഹാമിഷ് റോബിൻസണാണ് നിരവധി ശാരീരിക പ്രശ്നങ്ങളെ അതിജീവിച്ച് ദൈനംദിന ജീവിതം നയിക്കുന്നത്. വൃക്കയുടെ പ്രശ്നങ്ങൾക്ക് പുറമെ കേൾവിക്കുറവ്, സംസാരശേഷിയില്ലായ്മ, നെട്ടല്ലിന് വൈകല്യം, കടുത്ത ആസ്ത്മ, പഠനവൈകല്യം എന്നിവയും ഇൗ ബാലനെ വേട്ടയാടുന്നുണ്ട്. 2008 മേയ് 29ന്, മാസം തികയാതെ ജനിക്കുേമ്പാൾ റോബിൻസണ് ഒരു കിലോയിൽ താഴെയായിരുന്നു തൂക്കം. മൂന്ന് ആഴ്ചത്തെ ആശുപത്രിവാസത്തിന് ശേഷമായിരുന്നു കുഞ്ഞുമായി മാതാപിതാക്കൾ വീട്ടിലേക്ക് പോയത്. തുടർന്ന് മുലയൂട്ടലിന് പ്രയാസം നേരിട്ടതോടെയാണ് കുഞ്ഞിനെ കൂടുതൽ പരിശോധനകൾക്ക് വിധേയമാക്കിയത്.കുഞ്ഞിന് 17 മാസം പ്രായമായപ്പോഴാണ് ഡോക്ടർമാർ ജനിതക തകരാറുമൂലമുള്ള നിരവധി പ്രശ്നങ്ങൾ കണ്ടെത്തിയത്.ആറു വയസ്സിനുശേഷമാണ് കുഞ്ഞ് സംസാരിക്കാൻ തുടങ്ങിയത്. വൈദ്യശാസ്ത്രം ‘ഇക്ടോപിക് കിഡ്നി’ എന്ന് വിശേഷിക്കുന്ന വൃക്ക സ്ഥാനം തെറ്റി കാലിൽ സ്ഥിതിചെയ്യുന്നത് അത്യപൂർവമാണെന്ന് ചികിത്സിക്കുന്ന ഡോക്ടർമാർ പറഞ്ഞു. കാര്യങ്ങൾ ഇങ്ങനെയൊക്കെയാണെങ്കിലും കൊച്ചു റോബിൻസൺ അഞ്ച് വയസ്സിലേ കരാേട്ട അഭ്യസിക്കാൻ തുടങ്ങിയതായി അമ്മ കെ റോബിൻസൺ പറഞ്ഞു.കരാേട്ട പരിശീലനത്തിൽ അത്യുത്സാഹം കാണിക്കുന്ന റോബിൻസൺ ബ്ലാക്ക് ബെൽട്ട് നേടാനുള്ള ശ്രമത്തിലാണെന്നും അവർ പറഞ്ഞു.അപൂർവമായി കണ്ടെത്തിയ ഇൗ ജനിതക അവസ്ഥക്ക് ഡോക്ടർമാർ ‘ഹാമിഷ് സിൻഡ്രോം’ എന്ന് പേര് നൽകി ഗവേഷണം തുടരുകയാണ്. Subscribe to News60 :https://goo.gl/VnRyuF Read: http://www.news60.in/ https://www.facebook.com/news60malayalam/

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