Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3

American Journal of Medical Genetics

Volumn 133 A, Issue 2, 2005, Pages 151-157

  Amor, David J ^a,b,c,d   Voullaire, Lucille ^a,b,c   Bentley, Karen ^a,c   Savarirayan, Ravi ^a,b,c   Choo, K H Andy ^a,c  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b Genetic Health Services Victoria   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Chromosome 13; Growth hormone; Hand malformations; Neocentromere; Ring chromosome

Indexed keywords

GLYPICAN; GROWTH HORMONE; PROTEIN; PROTEIN FARP1; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX21; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BRACHYPHALANGY; CASE REPORT; CENTROMERE; CHROMOSOMAL INSTABILITY; CHROMOSOME 13Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 13; CHROMOSOME MAP; CLINICAL FEATURE; DISEASE ASSOCIATION; FINGER MALFORMATION; GENE LOCATION; GENE LOCUS; GROWTH HORMONE DEFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MALE; MONOSOMY; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; RING CHROMOSOME;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 13; FINGERS; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HUMAN GROWTH HORMONE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MONOSOMY; MOSAICISM; RING CHROMOSOMES;

EID: 14044268793     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30527     Document Type: Article

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