BIOMAT Database Logo BIOMAT Database Logo

Ring 13 in an adult male with a 13:13 translocation mother. 1983

J C de Almeida, and J C Llerena, and D M Gomes, and R R Martins, and E T Pereira

A male with a ring 13 chromosome [r(13)(p11q34)], mild mental retardation, short stature, oligoasthenospermia, and few dysmorphisms is reported. His mother who had a poor reproductive history is carrier of a t(13q13q), featuring a dicentric NOR-negative element. The clinical significance of the r(13) and the mother's unusual karyotype are discussed.

UI MeSH Term Description Entries
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
D001827 Body Height The distance from the sole to the crown of the head with body standing on a flat surface and fully extended. Body Heights,Height, Body,Heights, Body
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
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
D005260 Female Females
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013076 Sperm Count A count of SPERM in the ejaculum, expressed as number per milliliter. Sperm Number,Count, Sperm,Counts, Sperm,Number, Sperm,Numbers, Sperm,Sperm Counts,Sperm Numbers

Related Publications

J C de Almeida, and J C Llerena, and D M Gomes, and R R Martins, and E T Pereira
Ring chromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadism.
August 2004, American journal of medical genetics. Part A,
J C de Almeida, and J C Llerena, and D M Gomes, and R R Martins, and E T Pereira
Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring.
January 1990, Annales de genetique,
J C de Almeida, and J C Llerena, and D M Gomes, and R R Martins, and E T Pereira
Meiotic chromosomes in an infertile male with an unbalanced Y/13 translocation.
July 1977, Human genetics,
J C de Almeida, and J C Llerena, and D M Gomes, and R R Martins, and E T Pereira
Male infertility and 13-14 translocation.
March 1973, Lancet (London, England),
J C de Almeida, and J C Llerena, and D M Gomes, and R R Martins, and E T Pereira
Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13.
December 1990, Molecular biology & medicine,
J C de Almeida, and J C Llerena, and D M Gomes, and R R Martins, and E T Pereira
A familial 10/13 translocation: partial trisomy C in an infant associated with familial 10/13 translocation.
January 1974, Clinical genetics,
J C de Almeida, and J C Llerena, and D M Gomes, and R R Martins, and E T Pereira
CHROMOSOMAL TRANSLOCATION IN A MONGOLOID MALE CHILD AND HIS NORMAL MOTHER.
September 1963, Arquivos de neuro-psiquiatria,
J C de Almeida, and J C Llerena, and D M Gomes, and R R Martins, and E T Pereira
Trisomy 13 with a 13-X translocation.
May 1974, American journal of human genetics,
J C de Almeida, and J C Llerena, and D M Gomes, and R R Martins, and E T Pereira
Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies.
August 2002, European journal of human genetics : EJHG,
J C de Almeida, and J C Llerena, and D M Gomes, and R R Martins, and E T Pereira
Familial X;Y translocation in a malformed male infant and his mother.
September 1988, Jinrui idengaku zasshi. The Japanese journal of human genetics,
Copied contents to your clipboard!