1p36 deletion syndrome associated with Prader-Willi-like phenotype

Pediatrics International

Volumn 52, Issue 4, 2010, Pages 547-550

  Tsuyusaki, Yu ^a   Yoshihashi, Hiroshi ^a   Furuya, Noritaka ^a   Adachi, Masanori ^a   Osaka, Hitoshi ^a   Yamamoto, Kayono ^a,b   Kurosawa, Kenji ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b OCHANOMIZU UNIVERSITY   (Japan)

Author keywords

1p36 deletion syndrome; chromosome; fluorescence in situ hybridization; obesity; Prader Willi like phenotype

Indexed keywords

GENOMIC DNA; GROWTH HORMONE; PREALBUMIN; RETINOL BINDING PROTEIN; SOMATOMEDIN C; VALPROIC ACID;

1P36 DELETION SYNDROME; ARTICLE; BEHAVIOR DISORDER; BIRTH WEIGHT; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; CHROMOSOME 1P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DISORDER; CHROMOSOME TRANSLOCATION; COGNITIVE DEVELOPMENT; DIET RESTRICTION; DNA METHYLATION; ELECTROENCEPHALOGRAM; FACIES; FAILURE TO THRIVE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HUMAN; HUMAN CELL; HYPERPHAGIA; HYPOPIGMENTATION; MALE; MALNUTRITION; MENTAL DEFICIENCY; MOLECULAR PROBE; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; OUTCOME ASSESSMENT; PALPEBRAL FISSURE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PROVOCATION TEST; PSYCHOMOTOR DEVELOPMENT; SCHOOL CHILD; SEIZURE; STRABISMUS; SUCKING; TONIC CLONIC SEIZURE; TUBE FEEDING;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; FACIES; FEMALE; HUMANS; MALE; MENTAL RETARDATION; MUSCLE HYPOTONIA; OBESITY; PHENOTYPE; PRADER-WILLI SYNDROME; SYNDROME;

EID: 77955839380     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2010.03090.x     Document Type: Article

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