Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2723-2730

  Yatsenko, Svetlana A ^a   Torrado, Maria Del Valle ^b   Fernandes, Priscilla H ^a   Wiszniewska, Joanna ^a   Gallego, Marta ^b   Herrera, Jorge ^b   Bacino, Carlos A ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^c Texas Children's Hospital   (United States)

Author keywords

12p13; 12q12; Chromosome rearrangement; Critical region; FISH; Noonan syndrome

Indexed keywords

K RAS PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN; SOS PROTEIN;

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12; CHROMOSOME 12P; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HUMAN; MICROARRAY ANALYSIS; MOSAICISM; NOONAN SYNDROME; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCREENING TEST; SKIN EXAMINATION; ULTRASOUND;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 12; CLONE CELLS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; FEMALE; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MUTAGENESIS, INSERTIONAL; NOONAN SYNDROME; PREGNANCY; SIBLINGS;

EID: 71949117670     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33112     Document Type: Article

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