Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman

American Journal of Medical Genetics, Part A

Volumn 146, Issue 7, 2008, Pages 925-929

  Höckner, Martina ^a   Utermann, Barbara ^a   Erdel, Martin ^a   Fauth, Christine ^a   Utermann, Gerd ^a   Kotzot, Dieter ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Breakpoint; Parental origin; Ring chromosome 6

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 6; CYTOGENETICS; FEMALE; HUMAN; KARYOTYPING; MALFORMATION SYNDROME; MENTAL DEFICIENCY; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; RING CHROMOSOME; SCOLIOSIS; SHORT STATURE;

ADULT; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 6; DNA PRIMERS; GENOMIC IMPRINTING; GROWTH DISORDERS; HUMANS; MALE; RING CHROMOSOMES;

EID: 41849119878     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32251     Document Type: Article

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