J Med Genet. 1990 Aug;27(8):523-6.

Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Pivnick EK, Qumsiyeh MB, Tharapel AT, Summitt JB, Wilroy RS.

Source

Department of Pediatrics, University of Tennessee, Memphis 38163.

Abstract

Reciprocal translocations involving the short arm of acrocentric chromosomes can segregate to produce partial duplications without associated deletions. We present a case of an infant with a 46,XY,-15,+der(15),T(6;15)(q23;p12)pat chromosome complement. The infant had multiple congenital abnormalities including cranial anomalies, facial dysmorphism, anterior webbing of the neck, cardiac anomalies, and joint contractures. From a comparison of the infant's phenotype with 20 other patients with a similar duplication, it is evident that partial duplication of the long arm of chromosome 6 is a clinically diagnosable syndrome.

PMID:: 2213846; [PubMed - indexed for MEDLINE]
PMCID:: PMC1017204

Free PMC Article

Publication Types, MeSH Terms

Publication Types

MeSH Terms

LinkOut - more resources

Full Text Sources

Medical

chromosome 6 - Genetics Home Reference

Supplemental Content

Save items

Related citations in PubMed

Partial duplication of 17 long arm. [Ann Genet. 1988]
Partial duplication of 17 long arm.
Lenzini E, Leszl A, Artifoni L, Casellato R, Tenconi R, Baccichetti C. Ann Genet. 1988; 31(3):175-80.
Duplication of distal 17q from a maternal translocation: an additional case with some unique features. [J Med Genet. 1989]
Duplication of distal 17q from a maternal translocation: an additional case with some unique features.
Caine A, Knapton DM, Mueller RF, Congdon PJ, Haigh D. J Med Genet. 1989 Sep; 26(9):577-9.
Review Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37). [Am J Med Genet. 1994]
Review Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37).
Wang TH, Johnston K, Hsieh CL, Dennery PA. Am J Med Genet. 1994 Feb 15; 49(4):399-401.
Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base. [Am J Med Genet. 1987]
Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base.
Odell JM, Siebert JR, Bradley C, Salk D. Am J Med Genet. 1987 Jul; 27(3):687-92.
Review Familial translocation t(9;16). [J Med Genet. 1989]
Review Familial translocation t(9;16).
Dowman C, Lockwood D, Allanson J. J Med Genet. 1989 Aug; 26(8):525-8.

See reviews... See all...

Cited by 6 PubMed Central articles

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis. [Am J Med Genet A. 2010]
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.
Tabet AC, Aboura A, Gérard M, Pilorge M, Dupont C, Gadisseux JF, Hervy N, Pipiras E, Delahaye A, Kanafani S, et al. Am J Med Genet A. 2010 Jul; 152A(7):1781-8.
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. [Am J Hum Genet. 2000]
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.
Das S, Lese CM, Song M, Jensen JL, Wells LA, Barnoski BL, Roseberry JA, Camacho JM, Ledbetter DH, Schnur RE. Am J Hum Genet. 2000 Dec; 67(6):1586-91. Epub 2000 Oct 18.
Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines. [Mol Cell Biol. 2000]
Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines.
Piras G, El Kharroubi A, Kozlov S, Escalante-Alcalde D, Hernandez L, Copeland NG, Gilbert DJ, Jenkins NA, Stewart CL. Mol Cell Biol. 2000 May; 20(9):3308-15.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Partial duplication of the long arm of chromosome 6: a clinically recognisable s...
Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
J Med Genet. 1990 Aug ;27(8):523-6.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: