Prader-Willi syndrome large deletion on two brothers. Is this the exception that confirm the rule?;Dos hermanos con síndrome de Prader-Willi por deleción clásica. ¿Es la excepción que confirma la regla?

Revista de Neurologia

Volumn 32, Issue 10, 2001, Pages 935-938

  Fernandez Novoa M C ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN MACARENA   (Spain)

Author keywords

Brothers; Classical deletion; FISH; Methylation specific PCR; Microsatellites; Prader Willi syndrome

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CASE REPORT; CHROMOSOME 15; CHROMOSOME DELETION; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; HUMAN; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; SOUTHERN BLOTTING;

BLOTTING, SOUTHERN; CASE REPORT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; ENGLISH ABSTRACT; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICROSATELLITE REPEATS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRADER-WILLI SYNDROME;

EID: 1842688913     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3210.2000555     Document Type: Article

References (5)

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2. Butler MG, Palmer CG. Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet 1983; 1: 1285-6.
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5. Lubinsky M, Zellweger H, Greenswag L, Larson G, Hansmann I, Ledbetter DH. Familial Prader-Willi syndrome with apparently normal chromosomes. Am J Med Genet 1987; 28: 37-43.