Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q

American Journal of Medical Genetics, Part A

Volumn 146, Issue 15, 2008, Pages 1955-1962

  Calounova, Gabriela ^a,d   Hedvicakova, Petra ^a   Silhanova, Eva ^b   Kreckova, Gabriela ^c   Sedlacek, Zdenek ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b UNIVERSITY HOSPITAL OSTRAVA   (Czech Republic)

^c Gennet   (Czech Republic)

^d UPPSALA UNIVERSITY   (Sweden)

Author keywords

Atypical deletions; Breakpoint cloning; Deletion breakpoints; Methylation specific MLPA; Microarray CGH; Prader Willi syndrome

Indexed keywords

ANAMNESIS; APGAR SCORE; ARTICLE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME DELETION; CLINICAL FEATURE; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; NEWBORN; PHENOTYPE; PHYSICAL EXAMINATION; PRADER WILLI SYNDROME; PRIORITY JOURNAL; ADOLESCENT; CHROMOSOME 15; CHROMOSOME BREAKAGE; DNA METHYLATION; DNA MICROARRAY; GENETICS; MOLECULAR CLONING; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE;

MICROSATELLITE DNA;

ADOLESCENT; BASE SEQUENCE; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; CLONING, MOLECULAR; DNA METHYLATION; FEMALE; HUMANS; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PRADER-WILLI SYNDROME;

EID: 49649127450     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32416     Document Type: Article

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