Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature

European Journal of Medical Genetics

Volumn 49, Issue 5, 2006, Pages 384-395

  Feenstra, I ^a   Koolen, D A ^a   Van der Pas, J ^a   Hamel, B C J ^a   Mieloo, H ^a   Smeets, D F C M ^a   Van Ravenswaaij, C M A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cryptic translocation; Duplication 22qter; Partial trisomy; Sub microscopic rearrangement

Indexed keywords

ACROCENTRIC CHROMOSOME; ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 21P; CHROMOSOME 22; CHROMOSOME 22Q; CHROMOSOME DUPLICATION; CHROMOSOME NOR; CHROMOSOME TRANSLOCATION 21; CHROMOSOME TRANSLOCATION 22; CHROMOSOME VARIANT; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; KARYOTYPE 46,XX; MALE; PHENOTYPE; POLYMORPHIC LOCUS; STAINING; ANEUPLOIDY; CHROMOSOME 21; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; FACE; GENE TRANSLOCATION; GENETICS; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; PRESCHOOL CHILD; REVIEW;

ABNORMALITIES, MULTIPLE; ADULT; ANEUPLOIDY; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 22; DEVELOPMENTAL DISABILITIES; FACE; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; TRANSLOCATION, GENETIC;

EID: 33749249524     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.01.005     Document Type: Article

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