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Chapter-16 Chromosomal, Genetic and Metabolic Disorders

BOOK TITLE: PEDIBLOOM: Pediatric Cases & Summaries

Author
1. Elizabeth KE
2. Jacob Ann Mary
ISBN
9789350252819
DOI
10.5005/jp/books/11717_16
Edition
1/e
Publishing Year
2012
Pages
27
Author Affiliations
1. Government Medical College and SAT Hospital, Thiruvananthapuram, Kerala, India, SAT Hospital, Govt. Medical College, Thiruvananthapuram, Kerala, India, SAT Hospital, Govt. Medical College, Thiruvananthapuram, India, SAT Hospital, Govt. Medical College, Thiruvananthapuram, India., Government Medical College and SAT Hospital, Thiruvanthapuram, India, SAT Hospital, Government Medical College Thiruvananthapuram, Kerala, India; IAP TVM Branch 2012, Sree Avittom Thirunal Hospital, Government Medical College, Thiruvananthapuram, Kerala, Medical College and SAT Hospital, Trivandrum, Kerala, India, Trivandrum Medical College, Thiruvananthapuram, Kerala, India, SAT Hospital, Government Medical College, Thiruvananthapuram, Kerala, India, Sree Mookambika Institute of Medical Sciences, Kanyakumari, Tamil Nadu, India, Sree Mookambika Institute of Medical Sciences, Kulasekharam, Tamil Nadu, India
2. The Bhanu Nursing Home, Punalur, Kerala, India
Chapter keywords
Single gene/monogenic (“Mendelian”) inheritance, mitochondrial disorders, chromosomal anomalies, congenital anomalies, CHD, dysmorphic features, birth defects, Patau syndrome, Edward syndrome, Down’s syndrome, Adult Turner syndrome, Klinefelter syndrome, Cornelia de Lange syndrome, sonographic markers of trisomies, Trisomy-21, primary amenorrhea, Fragile X syndrome, Prader Willi Syndrome, Maple Syrup urine disease, phenylketonuria, hepatosplenomegaly, mucopolysaccharidosis, Gaucher disease, homocystinuria, galactosemia, tyrosinemia, glycogen storage disease, hypoglycemic seizures, ketotic hypoglycemia, methyl malonic acidemia, pedigree of mitochondrial disease, Knight’s move

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