Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): Importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies

American Journal of Medical Genetics

Volumn 113, Issue 4, 2002, Pages 367-370

  Kulharya, Anita S ^a   Lovell, Carolyn Mills ^b   Flannery, David B ^a  

^a MEDICAL COLLEGE OF GEORGIA   (United States)

^b UNIVERSITY OF SOUTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Autosomal t(11; 22); Monosomy 22; Mosaicism; Trisomy 11q23 qter; Uniparental disomy

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CELL LINE; CHROMOSOME 11; CHROMOSOME 22; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CONGENITAL MALFORMATION; CYTOGENETICS; HUMAN; KARYOTYPE; LYMPHOCYTE; MALE; MENTAL DEFICIENCY; MOSAICISM; PARTIAL MONOSOMY; PARTIAL TRISOMY; PEDIGREE ANALYSIS; PHENOTYPE; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; SKIN FIBROBLAST; UNIPARENTAL DISOMY; ZYGOTE; CHROMOSOME SEGREGATION; CYTOLOGY; FIBROBLAST; GENE TRANSLOCATION; GENETICS; KARYOTYPING; METABOLISM; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PEDIGREE; SKIN;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 22; FIBROBLASTS; HUMANS; KARYOTYPING; MALE; MOSAICISM; PEDIGREE; SKIN; TRANSLOCATION, GENETIC;

EID: 1842854262     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.b.10801     Document Type: Article

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