Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement

American Journal of Medical Genetics, Part A

Volumn 140, Issue 24, 2006, Pages 2721-2729

  Li, Peining ^a   Zhang, Hui Z ^a   Huff, Shannon ^a   Nimmakayalu, Manjunath ^a   Qumsiyeh, Mazin ^a   Yu, Jingwei ^a,b   Szekely, Anna ^a   Xu, Tian ^a,c   Pober, Barbara R ^a,d  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

Author keywords

11q interstitial deletion; Complex chromosome rearrangement; Exudative vitreoretinopathy; FZD4 haploinsufficiency

Indexed keywords

MICROSATELLITE DNA; OLIGONUCLEOTIDE;

ARTICLE; CENTROMERE; CHROMOSOME 11; CHROMOSOME 16; CHROMOSOME 5; CHROMOSOME 8; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME INVERSION; CHROMOSOME MAP; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPLEX CHROMOSOME REARRANGEMENT; CRANIOFACIAL MALFORMATION; DNA MICROARRAY; DNA SEQUENCE; EXUDATIVE VITREORETINOPATHY; FACE MALFORMATION; FEMALE; FINGER MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; FZD4 GENE; GENE; GENE DELETION; GENETIC ANALYSIS; GENOME ANALYSIS; GENOTYPE; GROWTH RETARDATION; HAPLOTYPE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE; KARYOTYPE PHENOTYPE CORRELATION; MENTAL DEFICIENCY; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; RETINA MALFORMATION; SEQUENCE ANALYSIS; TELOMERE; VITREORETINOPATHY;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CLEFT PALATE; CRANIOFACIAL ABNORMALITIES; DNA PRIMERS; EXUDATES AND TRANSUDATES; FEMALE; FINGERS; FRIZZLED RECEPTORS; HUMANS; KARYOTYPING; MODELS, GENETIC; PHENOTYPE; RECEPTORS, G-PROTEIN-COUPLED; RETINAL DISEASES; TOES; VITREOUS BODY;

EID: 33845235005     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31498     Document Type: Article

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