GET THE APP

Journal of Down Syndrome & Chromosome Abnormalities

Journal of Down Syndrome & Chromosome Abnormalities
Open Access

ISSN: 2472-1115

+1 (920)541-6085

Pinge Hui

Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing, China

Publications
  • Mini Review   
    Genetic Disorder of Obesity and Intellectual Disability of Specific Genes in Prader-Willi Syndrome
    Author(s): Pinge Hui*

    Prader-Willi condition is described by serious juvenile hypotonia with helpless suck and inability to flourish; hypogonadism causing genital hypoplasia and pubertal deficiency; trademark facial highlights; youth beginning heftiness and hyperphagia; formative deferral/gentle scholarly incapacity; short height; and a particular conduct aggregate. Rest irregularities and scoliosis are normal. Development chemical deficiency is continuous, and substitution treatment gives improvement in development, body organization, and actual traits. The board is generally to a great extent steady. Agreement clinical symptomatic measures exist, yet finding ought to be affirmed through hereditary testing. Prader-Willi disorder is because of nonattendance of in a fatherly way communicated engraved qualities at 15q11.2-q13 through fatherly cancellation of this area, maternal uniparental disomy 15 (2030%),.. Read More»

    Abstract HTML PDF

Top