Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype

American Journal of Medical Genetics

Volumn 137 A, Issue 3, 2005, Pages 308-312

  Grange, Dorothy K ^a   Garcia Heras, Jaime ^a   Kilani, Ramzi A ^a   Lamp, Stephen ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Chromosome 20 pericentric inversion; Rec(20)dup(20q); Trisomy 20q

Indexed keywords

APGAR SCORE; BLALOCK TAUSSIG ANASTOMOSIS; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME 20; CHROMOSOME ANALYSIS; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; FAMILY HISTORY; FEEDING DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; MULTIPLE MALFORMATION SYNDROME; MUSCULOSKELETAL SYSTEM MALFORMATION; PARACENTRIC CHROMOSOME INVERSION; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REVIEW; TRISOMY; TRISOMY 20Q; CHROMOSOME BANDING PATTERN; CHROMOSOME INVERSION; FATHER; GENETICS; KARYOTYPING; PATHOLOGY;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 20; FATHERS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INVERSION, CHROMOSOME; KARYOTYPING; PHENOTYPE; TRISOMY;

EID: 24344469020     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30877     Document Type: Review

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