Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome

European Journal of Medical Genetics

Volumn 57, Issue 6, 2014, Pages 279-283

  Žilina, Olga ^a,b   Kahre, Tiina ^a,b   Talvik, Inga ^b,c   Õiglane Shlik, Eve ^b,c   Tillmann, Vallo ^b,c   Õunap, Katrin ^a,b  

^a TARTU UNIVERSITY HOSPITAL   (Estonia)

^b UNIVERSITY OF TARTU   (Estonia)

^c TARTU UNIVERSITY HOSPITAL   (Estonia)

Author keywords

Isodisomy; Mosaic; Prader Willi syndrome; Uniparental disomy

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOMAL MICROARRAY ANALYSIS; CHROMOSOME 15; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DIPLOPIA; ENDOCRINE FUNCTION TEST; FACE DYSMORPHIA; FAMILY HISTORY; GYNECOMASTIA; HEADACHE; HETEROZYGOSITY LOSS; HUMAN; KARYOTYPING; KYPHOSIS; MALE; MATERNAL UNIPARENTAL DISOMY 15; MENTAL DISEASE; METHYLATION; METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MICROARRAY ANALYSIS; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PHENOTYPE; PHYSICAL EXAMINATION; PRADER WILLI SYNDROME; TREMOR; UNIPARENTAL DISOMY; YOUNG ADULT; ADOLESCENT; DNA METHYLATION; GENETICS; MOTHER; MULTIPLEX POLYMERASE CHAIN REACTION; PATHOLOGY;

SMALL NUCLEAR RIBONUCLEOPROTEIN; SNRPN PROTEIN, HUMAN;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 15; DNA METHYLATION; HUMANS; MALE; MICROARRAY ANALYSIS; MOSAICISM; MOTHERS; MULTIPLEX POLYMERASE CHAIN REACTION; PHENOTYPE; PRADER-WILLI SYNDROME; SNRNP CORE PROTEINS; UNIPARENTAL DISOMY;

EID: 84901006970     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.03.007     Document Type: Article

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