Biomaterial Database

Partial trisomy 16q resulting from maternal translocation. 1979

P Balestrazzi, and G Giovannelli, and L Landucci Rubini, and B Dallapiccola

A 3 1/2-year-old male with partial trisomy of the long arm of chromosome 16 resulting from a maternal balanced translocation is described. Karyotype: 46,XY,--22,der(22),t(16;22)(q21;p12)mat.

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
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D009122	Muscle Hypertonia	Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES.	Hypermyotonia,Muscular Hypertonicity,Hypertonia, Detrusor Muscle,Hypertonia, Infantile,Hypertonia, Neonatal,Hypertonia, Sphincter,Hypertonia, Transient,Muscle Tone Increased,Detrusor Muscle Hypertonia,Detrusor Muscle Hypertonias,Hypermyotonias,Hypertonia, Muscle,Hypertonias, Detrusor Muscle,Hypertonias, Infantile,Hypertonias, Muscle,Hypertonias, Neonatal,Hypertonias, Sphincter,Hypertonias, Transient,Hypertonicities, Muscular,Hypertonicity, Muscular,Increased, Muscle Tone,Infantile Hypertonia,Infantile Hypertonias,Muscle Hypertonia, Detrusor,Muscle Hypertonias,Muscle Hypertonias, Detrusor,Muscular Hypertonicities,Neonatal Hypertonia,Neonatal Hypertonias,Sphincter Hypertonia,Sphincter Hypertonias,Tone Increased, Muscle,Transient Hypertonia,Transient Hypertonias
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
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
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006848	Testicular Hydrocele	Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM.	Scrotal Hydrocele,Vaginal Hydrocele,Hydrocele, Scrotal,Hydrocele, Testicular,Hydrocele, Vaginal,Hydroceles, Scrotal,Hydroceles, Testicular,Hydroceles, Vaginal,Scrotal Hydroceles,Testicular Hydroceles,Vaginal Hydroceles
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