Common Genetic and Epigenetic Syndromes

Pediatric Clinics of North America

Volumn 62, Issue 2, 2015, Pages 411-426

  Adams, Darius J ^a,b   Clark, David A ^b  

^a Atlantic Health   (United States)

^b ALBANY MEDICAL CENTER   (United States)

Author keywords

Epigenetic; Genetic; Imprinting; Microdeletion; Syndrome

Indexed keywords

ALAGILLE SYNDROME; ANIRIDIA; BECKWITH WIEDEMANN SYNDROME; CAT CRY SYNDROME; CHROMOSOME DELETION; CLINICAL FEATURE; DIGEORGE SYNDROME; DNA DETERMINATION; DNA METHYLATION; DOWN SYNDROME; EPIGENETICS; GENETIC COUNSELING; GENETIC DISORDER; HAPPY PUPPET SYNDROME; HUMAN; KLINEFELTER SYNDROME; MEDICOLEGAL ASPECT; MILLER DIEKER SYNDROME; NEPHROBLASTOMA; PRADER WILLI SYNDROME; REVIEW; SILVER RUSSELL SYNDROME; SMITH MAGENIS SYNDROME; TRISOMY 13; TRISOMY 18; TURNER SYNDROME; WILLIAMS BEUREN SYNDROME; WOLF HIRSCHHORN SYNDROME; ANGELMAN SYNDROME; BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME DISORDERS; CLASSICAL LISSENCEPHALIES AND SUBCORTICAL BAND HETEROTOPIAS; GENETIC EPIGENESIS; GENETICS; PRADER-WILLI SYNDROME; SMITH-MAGENIS SYNDROME; TRISOMY; WAGR SYNDROME; WILLIAMS SYNDROME;

ALAGILLE SYNDROME; ANGELMAN SYNDROME; BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; CLASSICAL LISSENCEPHALIES AND SUBCORTICAL BAND HETEROTOPIAS; DIGEORGE SYNDROME; DNA METHYLATION; DOWN SYNDROME; EPIGENESIS, GENETIC; GENETIC COUNSELING; HUMANS; KLINEFELTER SYNDROME; PRADER-WILLI SYNDROME; SMITH-MAGENIS SYNDROME; TRISOMY; TURNER SYNDROME; WAGR SYNDROME; WILLIAMS SYNDROME;

EID: 84931030132     PISSN: 00313955     EISSN: 15578240     Source Type: Journal    
DOI: 10.1016/j.pcl.2014.11.005     Document Type: Review

References (10)

1. Girard J. Metabolic adaptations to change of nutrition at birth. Biol Neonate 1990, 58(1):3-15.
2. Owen O.E., Reichard G.A., Patel M.S., et al. Energy metabolism in feasting and fasting. Adv Exp Med Biol 1979, 111:169-188.
3. Ward Platt M., Deshpande S. Metabolic adaptation at birth. Semin Fetal Neonatal Med 2005, 10:341-350.
4. Arnoux J.B., Verkarre V., Saint-Martin C., et al. Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis 2011, 6:63.
5. van Gameren-Oosterom H.B., Buitendijk S.E., Bilardo C.M., et al. Unchanged prevalence of Down syndrome in the Netherlands: results from an 11-year nationwide birth cohort. Prenat Diagn 2012, 32:1035-1040.
6. Savva G.M., Walker K., Morris J.K. The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome). Prenat Diagn 2010, 30(1):57-64.
7. Gregor V., Sípek A., Sípek A., et al. Prenatal diagnostics of chromosomal aberrations Czech Republic: 1994-2007. Ceska Gynekol 2009, 74(1):44-54. [in Czech].
8. Kapadia R.K., Bassett A.S. Recognizing a common genetic syndrome: 22q11.2 deletion syndrome. CMAJ 2008, 178(4):391-393.
9. Morris C.A. Williams syndrome. GeneReviews 2006, University of Washington, Seattle, Seattle (WA), Available at:. http://www.ncbi.nlm.nih.gov/books/NBK1249/, R.A. Pagon, T.D. Bird, C.R. Dolan (Eds.).
10. Dagli A.I., Williams C.A. Angelman syndrome. GeneReviews 2011, University of Washington, Seattle, Seattle (WA), Available at:. http://www.ncbi.nlm.nih.gov/books/NBK1144/, R.A. Pagon, T.D. Bird, C.R. Dolan (Eds.).