Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects

Clinical Genetics

Volumn 66, Issue 1, 2004, Pages 46-52

  Shim, S H ^a   Wyandt, H E ^a   McDonald McGinn, D M ^b   Zackai, E Z ^b   Milunsky, Aubrey ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

BAC clone FISH; Chromosome 2q rearrangements; Other defects; Waardenburg's syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME INSERTION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CONGENITAL HYDROCEPHALUS; CRYPTORCHISM; CYTOGENETICS; DISEASE SEVERITY; FACE DYSMORPHIA; FAMILY HISTORY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENE SEQUENCE; HEAD CIRCUMFERENCE; HUMAN; KARYOTYPE; MALE; MENTAL DEFICIENCY; PARENT; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPINA BIFIDA; WAARDENBURG SYNDROME; X CHROMOSOME; Y CHROMOSOME;

ADOLESCENT; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOME PAINTING; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 2; DNA-BINDING PROTEINS; GENE REARRANGEMENT; HUMANS; HYDROCEPHALUS; MALE; MENTAL RETARDATION; PAIRED BOX TRANSCRIPTION FACTORS; SPECTRAL KARYOTYPING; SPINAL DYSRAPHISM; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

INSERTION SEQUENCES;

EID: 3242704306     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.00276.x     Document Type: Article

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