De novo "pure" partial trisomy (6)(p22.1→pter) in a chromosome 15 with an enlarged satellite, identified by microdissection

American Journal of Medical Genetics

Volumn 99, Issue 1, 2001, Pages 48-53

  Engelen, J J M ^a   Marcelis, C L M ^a   Alofs, M G P ^b   Loneus, W H ^b   Pulles Heintzberger, C F M ^a   Hamers, A J H ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Fluorescence in situ hybridization; Microdissection; Trisomy (6)(p22.1 pter

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 15; CHROMOSOME ABERRATION; CYTOGENETICS; FACE MALFORMATION; FEEDING DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; HYDRONEPHROSIS; KARYOTYPE; MALE; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRISOMY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 6; FACE; FEMALE; FETUS; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMANS; HYDRONEPHROSIS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; TRISOMY;

EID: 0035865995     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010215)99:1<48::AID-AJMG1128>3.0.CO;2-T     Document Type: Article

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