Biomaterial Database

Partial trisomy 4 resulting from a complex maternal rearrangement of chromosomes 2, 4, and 18 with interstitial translocation. 1979

M G Mattei, and J F Mattei, and R Bernard, and F Giraud

A woman presented a complex chromosome rearrangement with translocation between chromosome 2 and 4 in addition to an insertion of the band 4q12 leads to q13 in the long arm of chromosome 18. The authors present a case study of the daughter who displayed the abnormal chromosome 18 and trisomy of band 4q12 leads to q13.

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
D007805	Language Development Disorders	Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors.	Language Delay,Speech Delay,Auditory Processing Disorder, Central,Central Auditory Processing Disorder,Developmental Disorder, Speech or Language,Developmental Language Disorders,Language Disorders, Developmental,Semantic-Pragmatic Disorder,Speech or Language, Developmental Disorder,Delay, Speech,Delays, Speech,Development Disorder, Language,Developmental Language Disorder,Disorder, Language Development,Disorders, Language Development,Language Delays,Language Development Disorder,Language Disorder, Developmental,Semantic Pragmatic Disorder,Semantic-Pragmatic Disorders,Speech Delays
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
D011596	Psychomotor Disorders	Abnormalities of motor function that are associated with organic and non-organic cognitive disorders.	Psychomotor Impairment,Developmental Psychomotor Disorders,Psychomotor Disorders, Developmental,Developmental Psychomotor Disorder,Impairment, Psychomotor,Impairments, Psychomotor,Psychomotor Disorder, Developmental,Psychomotor Impairments
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002871	Chromosome Banding	Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.	Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
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