Biomaterial Database

Familial occurrence of partial trisomy 4q and probable monosomy 5p due to 4q/5p translocation. 1982

A Gencik, and A Gencikova, and A Pálova

Translocation between chromosomes 4q and 5p has been observed in 12 members of a family. Multiple deaths occurred in early childhood in the family but spontaneous stillbirth did not show an increased frequency. In two children, identical cytogenetic findings were found consisting of translocation between 4q and 5p, resulting in trisomy 4(q31 leads to qter) and, based on clinical symptomatology, of a probably monosomy 5(p15 leads to pter). The clinical picture of both children included the main features of the cri du chat syndrome: a low birthweight, catlike cry, severe psychomotor retardation, hypotonicity, antimongoloid slant of the eyelids, microcephaly together with other symptoms determined by trisomy 4q.

UI	MeSH Term	Description	Entries
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
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
D003410	Cri-du-Chat Syndrome	An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).	5p Deletion Syndrome,Chromosome 5p- Syndrome,5p Minus Syndrome,5p- Syndrome,Cat Cry Syndrome,Chromosome 5 Short Arm Deletion Syndrome,Chromosome 5p Deletion Syndrome,Crying Cat Syndrome,Deletion of Short Arm of Chromosome 5 Syndrome,5p Deletion Syndromes,5p Minus Syndromes,5p Syndrome,5p- Syndrome, Chromosome,5p- Syndromes,5p- Syndromes, Chromosome,Cat Cry Syndromes,Chromosome 5p- Syndromes,Cri du Chat Syndrome,Cri-du-Chat Syndromes,Crying Cat Syndromes,Deletion Syndrome, 5p,Deletion Syndromes, 5p,Minus Syndrome, 5p,Minus Syndromes, 5p,Syndrome, 5p Deletion,Syndrome, 5p Minus,Syndrome, 5p-,Syndrome, Cat Cry,Syndrome, Chromosome 5p-,Syndrome, Cri-du-Chat,Syndrome, Crying Cat,Syndromes, 5p Deletion,Syndromes, 5p Minus,Syndromes, Cat Cry,Syndromes, Chromosome 5p-,Syndromes, Cri-du-Chat,Syndromes, Crying Cat
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014178	Translocation, Genetic	A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.	Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D014314	Trisomy	The possession of a third chromosome of any one type in an otherwise diploid cell.	Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial