Partial trisomy of chromosome 6q: An interstitial duplication of the long arm

American Journal of Medical Genetics

Volumn 80, Issue 2, 1998, Pages 133-135

  Zneimer, Susan M ^a,b   Ziel, Barbara ^a   Bachman, Ronald ^a  

^a KAISER PERMANENTE MEDICAL CENTER   (United States)

^b GLAXOSMITHKLINE   (United Kingdom)

Author keywords

6q21q23; Chromosome 6; Fluorescence in situ hybridization; Long arm duplication

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME DUPLICATION; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HUMAN; MOUTH MALFORMATION; PARTIAL TRISOMY; PRESCHOOL CHILD; PRIORITY JOURNAL; SPEECH DISORDER;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 6; DEVELOPMENTAL DISABILITIES; DIABETES MELLITUS, TYPE 1; FEMALE; HERNIA, UMBILICAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; TRISOMY;

CYPRINUS CARPIO;

EID: 0031732921     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981102)80:2<133::AID-AJMG8>3.0.CO;2-B     Document Type: Article

References (11)

1. Brondum-Nielsen K, Bajalica S, Wulff K, Mikkelsen M (1993): Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome-6-specific library demonstrates the origin of a de novo 6q+ marker chromosome. Clin Genet 43: 235-239.
2. Chen H, Tyrkus M, Cohen F, Woolley PV, Mayeda K, Borgaonkar A, Espiritu CE, Simpson W (1976): Familial partial trisomy 6q syndromes resulting from inherited ins(5;6)(q33;q15q27). Clin Genet 9:631-637.
3. Giardino D, Rizzi N, Briscioli V, Bettio D (1994): A de novo 6q11-q15 duplication investigated by chromosome painting. Clin Genet 46:377-379.
4. Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffrè L (1995): Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21. Am J Med Genet 55:315-318.
5. Henegariu O, Heerema NA, Vance GH (1997): Mild "duplication 6q syndrome": A case with partial trisomy (6)(q23.3q25.3). Am J Med Genet 68:450-454.
6. Pierpont ME, MacCarthy KG, Knobloch WH (1986): Partial trisomy 6q and bilateral retinal detachment. Ophth Paediatr Genet 7:175-180.
7. Pivnick EK, Qumsiyeh MB, Tharapel AT, Summitt JB, Wilroy RS (1990): Partial duplication of the long arm of chromosome 6: A clinically recognisable syndrome. J Med Genet 27:523-526.
8. Stamberg J, Shapiro J, Valle D, Kuhajda FP, Thomas G, Wissow L (1981): Partial trisomy 6q, due to balanced maternal translocation (6;22)(q21;p13) or (q21;pter). Clin Genet 19:122-125.
9. Taysi K, Chao WT, Monaghan N, Monaco MP (1983): Trisomy 6q22-6qter due to maternal 6;21 translocation: Case report and review of the literature. Ann Genet (Paris) 26:243-246.
10. Temple IK, Gardner RJ, Robinson DO, Kibirige MS, Ferguson AW, Baum JD, Barber JCK, James RS, Shield JPH ( 1996): Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23. Hum Molec Genet 5:1117-1121.
11. Turleau C, de Grouchy J (1981): Trisomy 6qter. Clin Genet 19:202-206.