Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl

American Journal of Medical Genetics

Volumn 135 A, Issue 3, 2005, Pages 304-307

  Kotzot, Dieter ^a,b   Haberlandt, Edda ^a   Fauth, Christine ^a   Baumgartner, Sara ^a   Scholl Bürgi, Sabine ^a   Utermann, Gerd ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b Inst of Med Biol and Hum Genet   (Austria)

Author keywords

Del(18)(q12.2q21.1); Formation; Parental origin

Indexed keywords

ARTICLE; BRAIN DEVELOPMENT; CASE REPORT; CHEEK; CHROMOSOME 18Q; CHROMOSOME DELETION; CHROMOSOME DELETION 18; CHROMOSOME REARRANGEMENT; DEVELOPMENTAL DISORDER; DOWNWARD PALPEBRAL SLANT; ELECTROENCEPHALOGRAM; EPICANTHUS; FACE MALFORMATION; FATHER; FEMALE; HAPLOTYPE; HUMAN; MEIOSIS; MONOSOMY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PTOSIS; SEIZURE; SISTER CHROMATID; STRABISMUS;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMATIDS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; DEVELOPMENTAL DISABILITIES; FACE; FAMILY HEALTH; FATHERS; FEMALE; HUMANS; KARYOTYPING; MALE; MENTAL DISORDERS; MONOSOMY; PEDIGREE;

EID: 19944365236     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30727     Document Type: Article

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