Biomaterial Database

Partial trisomy 4q due to a maternal translocation: t(4;18)(q27;q21.31). 1997

G Van Buggenhout, and P H Moerman, and J P Fryns

Center for Human Genetics, University Hospital, Leuven, Belgium.

We report on a second trimester female fetus with 4q duplication (4q27-->4qter) and 18q deficiency (18q21.31-->qter) as the unbalanced product of a t(4;18)(q27;q21.31)mat. On fetopathological examination this fetus presented clinical features suggestive of the diagnosis of trisomy 18. A review is given of other reported patients with 4q duplication/18q deficiency.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
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
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002887	Chromosomes, Human, Pair 18	A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.	Chromosome 18
D002894	Chromosomes, Human, Pair 4	A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.	Chromosome 4
D005260	Female		Females
D005313	Fetal Death	Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.	Fetal Mummification,Fetal Demise,Death, Fetal,Deaths, Fetal,Demise, Fetal,Fetal Deaths,Mummification, Fetal
D005810	Multigene Family	A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)	Gene Clusters,Genes, Reiterated,Cluster, Gene,Clusters, Gene,Families, Multigene,Family, Multigene,Gene Cluster,Gene, Reiterated,Multigene Families,Reiterated Gene,Reiterated Genes
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