Clinical significance of copy number variations in the 11p15.5 imprinting control regions: New cases and review of the literature

Journal of Medical Genetics

Volumn 49, Issue 9, 2012, Pages 547-553

  Begemann, Matthias ^a   Spengler, Sabrina ^a   Gogiel, Magdalena ^a   Grasshoff, Ute ^b   Bonin, Michael ^b   Betz, Regina C ^c   Dufke, Andreas ^b   Spier, Isabel ^c   Eggermann, Thomas ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b Institut für Zellbiologie   (Germany)

^c UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 11P; CHROMOSOME REARRANGEMENT; CLINODACTYLY; COPY NUMBER VARIATION; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; GESTATIONAL AGE; HUMAN; INFANT; INHERITANCE; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; MOLECULAR IMPRINTING; OLIGOHYDRAMNIOS; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

ADULT; CHROMOSOMES, HUMAN, PAIR 11; DNA COPY NUMBER VARIATIONS; FEMALE; GENOMIC IMPRINTING; HUMANS; INFANT; INFANT, NEWBORN; MALE; PEDIGREE; YOUNG ADULT;

EID: 84870280917     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-100967     Document Type: Review

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