Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): Report of a new patient and review of the literature

American Journal of Medical Genetics

Volumn 111, Issue 1, 2002, Pages 71-75

  Plotner, Pamela L ^a   Smith, Janice L ^a,b   Northrup, Hope ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b Dynagene   (United States)

Author keywords

Chromosome 20q; Developmental delay; Fluorescent in situ hybridization (FISH); Syndrome, multiple congenital anomalies; Trisomy

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 20Q; CHROMOSOME 4Q; CHROMOSOME ANALYSIS; CLEFT LIP PALATE; CLINODACTYLY; DEVELOPMENTAL DISORDER; ECZEMA; FAILURE TO THRIVE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; KARYOTYPE; LOW SET EAR; MALE; MICROPHTHALMIA; MONOSOMY; MULTIPLE MALFORMATION SYNDROME; PRIORITY JOURNAL; TELOMERE; TRISOMY; TRISOMY 20; UPWARD PALPEBRAL SLANT; VERTEBRA MALFORMATION; CHROMOSOME 20; CHROMOSOME 4; CHROMOSOME DISORDER; CLEFT LIP; CLEFT PALATE; CONGENITAL MALFORMATION; FACE; FINGER; GENE TRANSLOCATION; GENETICS; KARYOTYPING; MENTAL DEFICIENCY; NEWBORN; REVIEW; SPINE; ULTRASTRUCTURE;

ABNORMALITIES, MULTIPLE; CASE REPORT; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 20; CHROMOSOMES, HUMAN, PAIR 4; CLEFT LIP; CLEFT PALATE; FACE; FINGERS; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; MENTAL RETARDATION; MONOSOMY; SPINE; TELOMERE; TRANSLOCATION (GENETICS); TRISOMY; HUMANS; TRANSLOCATION, GENETIC;

EID: 0037157782     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10420     Document Type: Article

References (9)

1. Trisomy 14q
2. Trisomy 20q. A new case and further phenotypic delineation
3. Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons
4. Trisomy 20q due to maternal t(16;20) translocation. First case
5. Partial trisomy 20q due to paternal t(8;20) translocation
6. Partial trisomy 20 (20q13) and partial trisomy 21(21pter-21q21.3)
7. Case report: Partial trisomy 20q(20q13.13-qter)
8. A rapid banding technique for human chromosomes
9. Trisomy 20q caused by der (X)t(X;20)(q28;q11.2)