A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features

American Journal of Medical Genetics, Part A

Volumn 155, Issue 9, 2011, Pages 2224-2228

  Cyr, Andrew B ^a   Nimmakayalu, Manjunath ^a   Longmuir, Susannah Q ^a   Patil, Shivanand R ^a   Keppler Noreuil, Kim M ^a   Shchelochkov, Oleg A ^a  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

4p16; ACGH; Array comparative genomic hybridization; FGFR3; Irregular iris pigmentation heterochromia; LETM1; Macrocephaly; Microduplication; TACC3; WHSC1; WHSC2; Wolf Hirschhorn critical region (WHSCR)

Indexed keywords

ARTICLE; BENIGN CHILDHOOD EPILEPSY; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CHROMOSOME 4P; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; COPY NUMBER VARIATION; CRIPAK GENE; DEVELOPMENTAL DISORDER; DNA MICROARRAY; DOWNWARD PALPEBRAL SLANT; EAR MALFORMATION; EYE COLOR; FACE DYSMORPHIA; FAMILY HISTORY; FGFR3 GENE; GENE; GENE DISRUPTION; GENE FUNCTION; GENOME ANALYSIS; HEMANGIOMA; HUMAN; HYDROCEPHALUS; HYPERTELORISM; INFANT; IRIS DISEASE; LETM1 GENE; MACROCEPHALY; MALE; MORPHOLOGICAL TRAIT; NOSE MALFORMATION; PARTIAL TRISOMY 4; PRIORITY JOURNAL; SLBP GENE; TACC3 GENE; WEBBED NECK; WOLF HIRSCHHORN SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 4; GENETIC ASSOCIATION STUDIES; GENOTYPE; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; INFANT; IRIS DISEASES; MACROCEPHALY; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PIGMENTATION DISORDERS; REPRESSOR PROTEINS; TRANSCRIPTIONAL ELONGATION FACTORS; WOLF-HIRSCHHORN SYNDROME;

EID: 84860419791     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34120     Document Type: Article

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