Complex chromosome rearrangements. Report of a new case and literature review. 1980

G S Pai, and G H Thomas, and W Mahoney, and B R Migeon

A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin--the first such instance to be recorded.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D002871 Chromosome Banding Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping. Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002900 Chromosomes, Human, 1-3 The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3. Chromosomes A,Group A Chromosomes,Chromosome, Group A,Chromosomes, Group A,Group A Chromosome
D002904 Chromosomes, Human, 21-22 and Y The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome. Chromosomes G,Group G Chromosomes,Chromosomes, Human, 21 22,Chromosomes, Human, 21-22,Chromosome, Group G,Chromosomes, Group G,Group G Chromosome
D002906 Chromosomes, Human, 6-12 and X The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome. Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D005260 Female Females
D005954 Glucosephosphate Dehydrogenase Glucose-6-Phosphate Dehydrogenase,Dehydrogenase, Glucose-6-Phosphate,Dehydrogenase, Glucosephosphate,Glucose 6 Phosphate Dehydrogenase
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

G S Pai, and G H Thomas, and W Mahoney, and B R Migeon
December 2006, Urology,
G S Pai, and G H Thomas, and W Mahoney, and B R Migeon
May 2012, Journal of assisted reproduction and genetics,
G S Pai, and G H Thomas, and W Mahoney, and B R Migeon
August 1996, American journal of medical genetics,
G S Pai, and G H Thomas, and W Mahoney, and B R Migeon
September 1988, Jinrui idengaku zasshi. The Japanese journal of human genetics,
G S Pai, and G H Thomas, and W Mahoney, and B R Migeon
March 2015, Andrologia,
G S Pai, and G H Thomas, and W Mahoney, and B R Migeon
April 2012, American journal of medical genetics. Part A,
G S Pai, and G H Thomas, and W Mahoney, and B R Migeon
August 2004, Arquivos brasileiros de endocrinologia e metabologia,
G S Pai, and G H Thomas, and W Mahoney, and B R Migeon
January 1979, Human genetics,
G S Pai, and G H Thomas, and W Mahoney, and B R Migeon
September 2023, Italian journal of pediatrics,
G S Pai, and G H Thomas, and W Mahoney, and B R Migeon
December 2021, Cureus,
Copied contents to your clipboard!