Biomaterial Database

Trisomy 20p from maternal t(3;20) translocation. 1979

N Archidiacono, and D Tecilazich, and G Tonini, and M Rocchi, and G Filippi

A case of trisomy 20p resulting from a maternal translocation t(3;20) is described. QM and BUdR banding techniques were used for its identification. A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment, are the most typical features of the proband.

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
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002903	Chromosomes, Human, 19-20	The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.	Chromosomes F,Group F Chromosomes,Chromosome, Group F,Chromosomes, Group F,Group F Chromosome
D005145	Face	The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.	Faces
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013285	Strabismus	Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)	Concomitant Strabismus,Dissociated Horizontal Deviation,Dissociated Vertical Deviation,Heterophoria,Heterotropias,Hypertropia,Non-Concomitant Strabismus,Nonconcomitant Strabismus,Phorias,Squint,Strabismus, Comitant,Strabismus, Noncomitant,Convergent Comitant Strabismus,Mechanical Strabismus,Comitant Strabismus,Comitant Strabismus, Convergent,Deviation, Dissociated Horizontal,Dissociated Horizontal Deviations,Dissociated Vertical Deviations,Heterophorias,Heterotropia,Horizontal Deviation, Dissociated,Hypertropias,Non Concomitant Strabismus,Noncomitant Strabismus,Phoria,Strabismus, Concomitant,Strabismus, Convergent Comitant,Strabismus, Mechanical,Strabismus, Non-Concomitant,Strabismus, Nonconcomitant
D013771	Tetralogy of Fallot	A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS.	Fallot's Tetralogy,Tetralogy, Fallot's,Fallot Tetralogy,Fallots Tetralogy,Tetralogy, Fallot,Tetralogy, Fallots
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