Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay

American Journal of Medical Genetics, Part A

Volumn 143, Issue 2, 2007, Pages 172-178

  Erdogan, Fikret ^a   Ullmann, Reinhard ^a   Chen, Wei ^a   Schubert, Marei ^a   Adolph, Sabine ^b   Hultschig, Claus ^a   Kalscheuer, Vera ^a   Ropers, Hans Hilger ^a   Spaich, Christiane ^b   Tzschach, Andreas ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b Institute of Clinical Genetics   (Germany)

Author keywords

Array CGH; Atrial septal defect; Cleft palate; del(15)(q14); Mental retardation

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME G BAND; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CX36 GENE; DEVELOPMENTAL DISORDER; DNA MICROARRAY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MAPPING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOME ANALYSIS; GREM1 GENE; HAPPY PUPPET SYNDROME; HUMAN; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; SUBMEGABASE RESOLUTION WHOLE GENOME TILING PATH BACTERIAL ARTIFICIAL CHROMOSOME ARRAY;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 15; CLEFT PALATE; DEVELOPMENTAL DISABILITIES; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; MENTAL RETARDATION; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS;

EID: 33845999965     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31541     Document Type: Article

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