A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies

American Journal of Medical Genetics

Volumn 129, Issue 2, 2004, Pages 124-129

  Kline, Antonie D ^a   Griffin, Constance A ^b   Haddadin, Mary H ^b   Chudoba, Ilse ^c   Morsberger, Laura A ^b   Hawkins, Anita L ^b   Amato, R Stephen ^d   Munshi, Gaurang ^a   Cohen, Maimon M ^a  

^a GREATER BALTIMORE MEDICAL CENTER   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Department of Metasystems ^*  (Germany)

^d EASTERN MAINE MEDICAL CENTER   (United States)

Author keywords

Chromosomes 1, 6, 7, 12, 18; Complex karyotype; Double inversion; Multicolor high resolution banding; Multiple chromosomal rearrangements; Translocations

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 1; CHROMOSOME 12; CHROMOSOME 18; CHROMOSOME 6; CHROMOSOME 7; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; DISEASE COURSE; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GESTATIONAL AGE; HUMAN; KARYOTYPE 46,XX; KARYOTYPING; METAPHASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SMALL FOR DATE INFANT;

EID: 4344667180     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30130     Document Type: Article

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