Male with mosaicism for supernumerary ring X chromosome: Analysis of phenotype and characterization of genotype using array comparative genome hybridization

Journal of Craniofacial Surgery

Volumn 21, Issue 5, 2010, Pages 1369-1375

  Baker, Peter R ^a   Tsai, Anne Chun Hui ^a   Springer, Michelle ^a   Swisshelm, Karen ^a   March, Jennifer ^a   Brown, Kathleen ^a   Bellus, Gary ^a  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

Author keywords

craniofrontonasal dysplasia; functional disomy; Genetics; supernumerary X ring

Indexed keywords

ARTICLE; CASE REPORT; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; FACE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION REGULATION; GENETICS; GENOTYPE; HUMAN; INFANT; MALE; MICROARRAY ANALYSIS; MOSAICISM; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; RING CHROMOSOME; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, X; DEVELOPMENTAL DISABILITIES; DOSAGE COMPENSATION, GENETIC; FACE; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MICROARRAY ANALYSIS; MOSAICISM; PHENOTYPE; RING CHROMOSOMES;

EID: 77957363059     PISSN: 10492275     EISSN: None     Source Type: Journal    
DOI: 10.1097/SCS.0b013e3181ec6ac0     Document Type: Article

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