Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes

American Journal of Medical Genetics, Part A

Volumn 140, Issue 15, 2006, Pages 1637-1643

  Rice, G M ^a,e   Qi, Z ^b,d   Selzer, R ^c   Richmond, T ^c   Thompson, K ^b   Pauli, R M ^a   Yu, J ^a,b,d  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^b WISCONSIN STATE LABORATORY OF HYGIENE   (United States)

^c Roche NimbleGen Inc   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

Chromosome 1; Chromosome deletion; Deletion breakpoints; Genotype phenotype correlation; Microarray; Microdissection

Indexed keywords

5 METHYLTETRAHYDROFOLATE HOMOCYSTEINE METHYLTRANSFERASE; ALPHA ACTININ; CALPAIN II; CHAPERONE; DEGENERATIVE SPERMATOCYTE HOMOLOG 1; DISRUPTED IN SCHIZOPHRENIA 1 PROTEIN; DUAL SPECIFICITY PHOSPHATASE 10; EGL NINE HOMOLOG 1; ENOLASE 1; ENTACTIN; EPOXIDE HYDROLASE 1; FARNESYL TRANS TRANSFERASE; FUMARATE HYDRATASE; GENE PRODUCT; GLYCERONEOPHOSPHATE O ACYLTRANSFERASE; GREMLIN 2 HOMOLOG; HISTONE H3; LAMIN B RECEPTOR; LECTIN GALACTOSIDE BINDING SOLUBLE 8; LEFT RIGHT DETERMINATION FACTOR 1; LEFT RIGHT DETERMINATION FACTOR 2; LYSOSOMAL TRAFFICKING REGULATOR; MUSCARINIC M3 RECEPTOR; NICOTINAMIDE ADENINE DINUCLEOTIDE ADENOSINE DIPHOSPHATE RIBOSYLTRANSFERASE 1; NIDOGEN 1; RYANODINE RECEPTOR; SIGNAL RECOGNITION PARTICLE; TATA BINDING PROTEIN ASSOCIATED FACTOR; TRANSLIN ASSOCIATED PROTEIN 10; TUMOR PROTEIN P53 BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHOANA ATRESIA; CHROMOSOME 1Q; CHROMOSOME DELETION; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME MICRODISSECTION; CLEFT PALATE; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; CRYPTORCHISM; CYTOGENETICS; DEVELOPMENTAL DISORDER; DNA MICROARRAY; EPICANTHUS; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROESOPHAGEAL REFLUX; GENE FUNCTION; GENOTYPE PHENOTYPE CORRELATION; HAMARTOMA; HIGH ARCHED PALATE; HUMAN; HUMAN TISSUE; INFANT; LOW SET EAR; MACROGLOSSIA; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MICROGNATHIA; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; SEIZURE; SLEEP APNEA SYNDROME;

CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CYTOGENETICS; DNA PRIMERS; GENE DELETION; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MICRODISSECTION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE;

EID: 33746584788     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31349     Document Type: Article

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