A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

European Journal of Human Genetics

Volumn 20, Issue 9, 2012, Pages 986-989

  Knijnenburg, Jeroen ^a   Van Bever, Yolande ^a   Hulsman, Lorette O M ^a   Van Kempen, Chantal A P ^a   Bolman, Galhana M ^a   Van Loon, Rosa Laura E ^a   Beverloo, H Berna ^a   Van Zutven, Laura J C M ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

22q11; anal atresia; cat eye syndrome; intrachromosomal gain; preauricular anomalies; triplication

Indexed keywords

ANUS ATRESIA; ARTICLE; ATP6V1E1 GENE; ATRESIA; CASE REPORT; CAT EYE SYNDROME; CECR2 GENE; CHROMOSOME ABERRATION; CONTROLLED STUDY; COPY NUMBER VARIATION; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE AMPLIFICATION; GENE MAPPING; HUMAN; INTERPHASE; INTRACHROMOSOMAL TRIPLICATION; METAPHASE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; PEDIGREE; PHENOTYPE; PREAURICULAR TAG; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SLC25A18 GENE;

ABNORMALITIES, MULTIPLE; ADULT; AMINO ACID TRANSPORT SYSTEM X-AG; ANEUPLOIDY; CHROMOSOME DISORDERS; CHROMOSOME DUPLICATION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; FAMILY; FEMALE; GENE DOSAGE; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; TRANSCRIPTION FACTORS; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 84865202400     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.43     Document Type: Article

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