Biomaterial Database

[Phenotypic variation in partial trisomy 4q (author's transl)]. 1975

W Vogel, and J W Siebers, and J Gunkel

The clinical and cytogenetic data of 3 non-related patients who have a partial trisomy 4q in common are reported. The chromosome aberration originated from a parental balanced translocation in 2 cases (t(3p+;4q--)and t(4q--;18q+)); in the 3rd case an inverted insertion of 4q22 yields q34 into 4q34 occured spontaneously. A comparison of the symptoms exhibited by these probands and 7 cases from the literature gives no indication of an uniform phaenotype of this aberration.

UI	MeSH Term	Description	Entries
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297	Male		Males
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
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
D002902	Chromosomes, Human, 16-18	The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.	Chromosomes E,Group E Chromosomes,Chromosome, Group E,Chromosomes, Group E,E Chromosomes, Group,Group E Chromosome
D002905	Chromosomes, Human, 4-5	The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.	Chromosomes B,Group B Chromosomes,Chromosome, Group B,Chromosomes, Group B,Group B Chromosome
D005260	Female		Females
D006257	Head	The upper part of the human body, or the front or upper part of the body of an animal, typically separated from the rest of the body by a neck, and containing the brain, mouth, and sense organs.	Heads
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities