Further delineation of the chromosome 14q terminal deletion syndrome

American Journal of Medical Genetics

Volumn 110, Issue 1, 2002, Pages 65-72

  Van Karnebeek, Clara D M ^a   Quik, Safira ^a   Sluijter, Sigrid ^a   Hulsbeek, Miriam M F ^a   Hoovers, Jan M N ^a   Hennekam, Raoul C M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Chromosome 14; Epigenetic silencing; Microdeletion; Phenotype genotype analysis; Ring chromosome; Telomere positioning; Terminal deletion

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 14P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 14; CLINICAL FEATURE; DOSE RESPONSE; FACE DYSMORPHIA; FEMALE; GENE SILENCING; GENOME IMPRINTING; GENOTYPE; HUMAN; HUMAN CELL; MITOSIS RATE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RING CHROMOSOME; SEIZURE; TELOMERE; TERMINAL DELETION SYNDROME;

ABNORMALITIES, MULTIPLE; BLEPHAROPHIMOSIS; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; DEVELOPMENTAL DISABILITIES; FEMALE; FOLLOW-UP STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; KARYOTYPING; MUSCLE HYPOTONIA; SYNDROME;

EID: 0036605106     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10207     Document Type: Article

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