18q部分三体综合征 - Suppr

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Partial trisomy 18q.

作者信息

Elbistan M, Kucukoduk S, Kara N

机构信息

Department of Medical Biology and Genetics, Ondokuz Mayis University, Samsun, Turkey.

出版信息

Indian J Pediatr. 1996 May-Jun;63(3):393-6. doi: 10.1007/BF02751537.

DOI:10.1007/BF02751537

PMID:10830017

Abstract

摘要

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本文引用的文献

Chromosome preparations of leukocytes cultured from human peripheral blood.

Exp Cell Res. 1960 Sep;20:613-6. doi: 10.1016/0014-4827(60)90138-5.

Precise mapping of a de novo duplication 18(q21-->q22) utilizing cytogenetic, biochemical, and molecular techniques.

Am J Med Genet. 1993 Jun 15;46(5):520-3. doi: 10.1002/ajmg.1320460512.

Prenatal diagnosis of a fetus with partial monosomy 7(q34-->qter) and partial trisomy 18(q21-->qter).

Prenat Diagn. 1993 Oct;13(10):983-8. doi: 10.1002/pd.1970131013.

Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18.

Am J Hum Genet. 1993 Dec;53(6):1269-78.

Trisomy 18q. A case report and review of karyotype-phenotype correlations.

Hum Genet. 1981;57(1):78-82. doi: 10.1007/BF00271173.

Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3).

Jinrui Idengaku Zasshi. 1991 Sep;36(3):257-65. doi: 10.1007/BF01910544.

Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18.

Am J Med Genet. 1990 Aug;36(4):506-10. doi: 10.1002/ajmg.1320360427.

[Correlations between karyotype and phenotype in structural and numerical abnormalities of chromosome 18].

Boll Soc Ital Biol Sper. 1992 Apr;68(4):263-9.

Partial trisomy 18q in a newborn with typical 18 trisomy phenotype.

Hum Genet. 1978 Oct 31;44(2):201-5. doi: 10.1007/BF00295415.

Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.

J Med Genet. 1978 Feb;15(1):76-8. doi: 10.1136/jmg.15.1.76.

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