Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 3148-3153

  Al Kateb, Hussam ^a,d   Hahn, Amanda ^a   Gastier Foster, Julie M ^b,c   Jeng, Linda ^a   McCandless, Shawn E ^a   Curtis, Christine A ^a  

^a UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^b NATIONWIDE CHILDREN S HOSPITAL   (United States)

^c THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Chromosome 19p13.3; Chromosome deletion; Clinical genetics; Cutis aplasia; Cytogenetics; Dysmorphology; Microarray; SNPs

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA 11; TRANSDUCIN LIKE ENHANCER OF SPLIT 2; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHROMOSOME 19P; CHROMOSOME G BAND; CONGENITAL MALFORMATION; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HEARING LOSS; HEART DISEASE; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN APLASIA; VARIABLE NUMBER OF TANDEM REPEAT;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 19; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; ECTODERMAL DYSPLASIA; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MENTAL RETARDATION; MUSCLE HYPOTONIA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, SINGLE NUCLEOTIDE; SEVERITY OF ILLNESS INDEX;

EID: 78649648082     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33738     Document Type: Article

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