Deletion 14q and pericentric inversion 14. 1978

J Nielsen, and A Homma, and K Rasmussen, and E Ried, and K Sorensen, and P Saldana-Garcia

A woman with deletion 14q as well as inversion 14 is presented, and physical signs are compared with those of patients with deletion long arm 13. No previous case of deletion long arm 14 has been published.

UI MeSH Term Description Entries
D007446 Chromosome Inversion An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome. Inversion, Chromosome,Inversion, Chromosomal,Chromosomal Inversion,Chromosomal Inversions,Chromosome Inversions,Inversions, Chromosomal,Inversions, Chromosome
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
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002901 Chromosomes, Human, 13-15 The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15. Chromosomes D,Group D Chromosomes,Chromosome, Group D,Chromosomes, Group D,Group D Chromosome
D003878 Dermatoglyphics The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles. Fingerprints,Plantar Prints,Fingerprint,Plantar Print,Print, Plantar,Prints, Plantar
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

J Nielsen, and A Homma, and K Rasmussen, and E Ried, and K Sorensen, and P Saldana-Garcia
January 1977, American journal of medical genetics,
J Nielsen, and A Homma, and K Rasmussen, and E Ried, and K Sorensen, and P Saldana-Garcia
January 2008, Journal of applied genetics,
J Nielsen, and A Homma, and K Rasmussen, and E Ried, and K Sorensen, and P Saldana-Garcia
July 1978, Human genetics,
J Nielsen, and A Homma, and K Rasmussen, and E Ried, and K Sorensen, and P Saldana-Garcia
August 1987, Journal of medical genetics,
J Nielsen, and A Homma, and K Rasmussen, and E Ried, and K Sorensen, and P Saldana-Garcia
March 1974, Journal de genetique humaine,
J Nielsen, and A Homma, and K Rasmussen, and E Ried, and K Sorensen, and P Saldana-Garcia
January 2008, Clinical dysmorphology,
J Nielsen, and A Homma, and K Rasmussen, and E Ried, and K Sorensen, and P Saldana-Garcia
January 2012, Clinical dysmorphology,
J Nielsen, and A Homma, and K Rasmussen, and E Ried, and K Sorensen, and P Saldana-Garcia
July 1980, Clinical genetics,
J Nielsen, and A Homma, and K Rasmussen, and E Ried, and K Sorensen, and P Saldana-Garcia
January 2015, Molecular cytogenetics,
J Nielsen, and A Homma, and K Rasmussen, and E Ried, and K Sorensen, and P Saldana-Garcia
July 2005, Prenatal diagnosis,
Copied contents to your clipboard!