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List of clinical features observed in Emanuel syndrome.

List of clinical features observed in Emanuel syndrome.

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Table 2 . List of clinical features observed in Emanuel syndrome.
Ekstra derivatif kromozom 22 taşıyan bir olgu: emanuel sendromu
Conference Paper
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  • Oct 2015
Emanuel sendromu multipl konjenital anomaliler ve büyüme kısıtlılığı ile karekterizedir. Genellikle dengeli t(11;22) taşıyıcısı ebeveynlerin etkilenmiş çocukları yenidoğan döneminde teşhis edilir. Olgumuz 3 yaşında erkek ve t(11;22)(q23;q11) taşıyıcısı anneden kaynaklanan ve kromozom analizi sonucunda +der(22) t(11,22) (q25;q13) saptanan olguyu siz...
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Context 1
... all children with ES have global devel- opmental delays and intellectual disabilities. Table 2 shows the list of clinical features observed in Emanuel syndrome. Management involves a multi disciplinary team approach involving pedodontist, pediatrician, plastic surgeon, geneticist, gastrologist, speech thera- pist, urologist, cardiologist, ear, nose and throat (ENT) surgeon and ophthalmologist. ...