Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype

American Journal of Medical Genetics, Part A

Volumn 164, Issue 2, 2014, Pages 425-431

  Anderlid, Britt Marie ^a,b   Lundin, Johanna ^b   Malmgren, Helena ^a,b   Lehtihet, Mikael ^b   Nordgren, Ann ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Array CGH; Atypical deletion; Mosaicism; Prader Willi; SnoRNAs; SNRF SNRPN

Indexed keywords

GENOMIC DNA; SMALL NUCLEOLAR RNA; SMALL NUCLEOLAR RNA NPAP1; SMALL NUCLEOLAR RNA SNORD109 A; SMALL NUCLEOLAR RNA SNORD109 B; SMALL NUCLEOLAR RNA SNORD115; SMALL NUCLEOLAR RNA SNORD116; SMALL NUCLEOLAR RNA SNORD64; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPARATIVE STUDY; CONTROLLED STUDY; DNA DETERMINATION; EATING DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE CLUSTER; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HYPOGONADISM; KARYOTYPE; LEUKOCYTE; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; OBESITY; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SNURF SNRPN GENE;

ARRAY-CGH; ATYPICAL DELETION; MOSAICISM; PRADER-WILLI; SNORNAS; SNRF-SNRPN;

ADULT; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MOSAICISM; MULTIGENE FAMILY; NUCLEAR PROTEINS; PHENOTYPE; PRADER-WILLI SYNDROME; REPRODUCIBILITY OF RESULTS; RNA, SMALL NUCLEOLAR; SEQUENCE DELETION;

EID: 84892880982     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36307     Document Type: Article

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