De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies

American Journal of Medical Genetics, Part A

Volumn 143, Issue 4, 2007, Pages 338-342

  Sawyer, Jeffrey R ^a,b   Binz, Regina Lichti ^a   Swanson, Charles M ^a   Lim, Cynthia ^a  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

Fluorescence in situ hybridization (FISH); Partial trisomy 1q; Proximal duplication 1q

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME G BAND; CLINICAL FEATURE; CONGENITAL MALFORMATION; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; KARYOTYPING; MOLECULAR PROBE; MULTILOCUS SEQUENCE TYPING; PARTIAL TRISOMY; PRIORITY JOURNAL; TURNER SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 1; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; TRISOMY;

EID: 33846786931     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31604     Document Type: Article

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