A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 154-163

  Bedoyan, Jirair K ^a   Lesperance, Marci M ^a   Ackley, Todd ^a   Iyer, Ramaswamy K ^a   Innis, Jeffrey W ^a   Misra, Vinod K ^a,b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

Author keywords

6p25; ACGH; Epiphyseal dysplasia; FOXC1; Rearrangement; SNP array; TaqMan

Indexed keywords

DUAL SPECIFICITY PHOSPHATASE 22; FORKHEAD TRANSCRIPTION FACTOR; OLIGONUCLEOTIDE; PHOSPHATASE; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR FOXF2; TRANSCRIPTION FACTOR FOXQ1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 6P; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CONVERGENT STRABISMUS; DEVELOPMENTAL DISORDER; DISEASE CLASSIFICATION; DISEASE COURSE; DUANE RETRACTION SYNDROME; DYSPLASIA; EYE DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DOSAGE; GENE LOCATION; GENE REARRANGEMENT; GENOME ANALYSIS; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MIXED HEARING LOSS; MULTIPLE EPIPHYSEAL DYSPLASIA; MYOPIA; NERVE PARALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION; TORTICOLLIS;

BASE SEQUENCE; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 6; COMPARATIVE GENOMIC HYBRIDIZATION; DUAL-SPECIFICITY PHOSPHATASES; DUANE RETRACTION SYNDROME; FORKHEAD TRANSCRIPTION FACTORS; GENE REARRANGEMENT; HEARING LOSS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MITOGEN-ACTIVATED PROTEIN KINASE PHOSPHATASES; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OSTEOCHONDRODYSPLASIAS; POLYMORPHISM, SINGLE NUCLEOTIDE; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 78650664541     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33751     Document Type: Article

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