Inversion Duplication of Chromosome 6 with Trisomic Codominant Expression of HLA Antigens

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1979 Jan 1

PMID 433922

Citations 7

Authors

G Pearson

J D Mann

J Bensen

R W Bull

Affiliations

Soon will be listed here.

Abstract

Trisomic codominant expression of the HLA antigens was observed in an infant with duplication of a part of 6p occurring as a result of crossing over within a paternally transmitted pericentric inversion. The HLA-A and B loci were linked absolutely with the inversion chromosome in a four generation pedigree.

Citing Articles

De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism.

Turkyilmaz A, Cimbek E, Cebi A, Acar Arslan E, Karaguzel G Mol Syndromol. 2023; 14(1):35-43.

PMID: 36777706 PMC: 9912003. DOI: 10.1159/000525393.

An Adolescent with a Rare Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination.

Peterman L, Vance G, Conboy E, Anderson K, Weaver D Case Rep Genet. 2020; 2020:8857628.

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The phenotype in de novo and familial pericentric inversion 6. A problem in karyotype-phenotype correlation.

Schmidt A Hum Genet. 1982; 61(2):167-70.

PMID: 7129445 DOI: 10.1007/BF00274212.

Orientation of loci within the human major histocompatibility complex by chromosomal in situ hybridization.

Morton C, Kirsch I, Nance W, Evans G, Korman A, Strominger J Proc Natl Acad Sci U S A. 1984; 81(9):2816-20.

PMID: 6585830 PMC: 345161. DOI: 10.1073/pnas.81.9.2816.

Pericentric inversions. Problems and significance for clinical genetics.

Kaiser P Hum Genet. 1984; 68(1):1-47.

PMID: 6389316 DOI: 10.1007/BF00293869.

References

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