Trisomy 6q syndrome: A case with a «de novo» 6q23 tandem duplication

Genetic Counseling

Volumn 12, Issue 2, 2001, Pages 145-150

  Causio, F ^a   Fischetto, R ^a   Carnevale, F ^a   Pansini, A ^a   Rocchi, M ^a  

^a NONE   (Italy)

Author keywords

Abnormal phenotype; Chromosome 6q duplication; Chromosome painting; Fluorescence In situ hybridization

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME DUPLICATION; CYTOGENETICS; HUMAN; IN SITU HYBRIDIZATION; MALE; PHENOTYPE; SCHOOL CHILD; TRISOMY;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 6; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PHENOTYPE; TRISOMY;

EID: 0034953656     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome-6-specific library demonstrates the origin of a de novo 6q+ marker chromosome
2. Trisomie partielle pour le bras long d'un C (?6) par translocation t(Gp+:Cqs+)
3. A de novo 6q11-q15 duplication investigated by chromosome painting
4. Mild «duplication 6q syndrome»: A case with partial trisomy (6)(q23.3q25.3)
5. Prenatal diagnosis of a de novo trisomy 6q 22.2→6qter and monosomy 1 pter→1 p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q
6. High resolution mapping of human chromosomes 11 by in situ hybridization with cosmid clones
7. The origin of cytologically unidentifiable chromosome abnormalities: Six cases ascertained by targeted chromosome-band painting
8. Partial duplication of the long arm of chromosome 6: A clinically recognizable syndrome
9. Partial trisomy 6q, due to balanced maternal translocation (6;22)(q21 ;p13) or (q21 ;pter)
10. Trisomy 6q22-6qter due to maternal 6;21 translocation. Case report and review of the literature
11. Trisomy 6qter