BIOMAT Database Logo BIOMAT Database Logo

[Balanced translocation 8:10 and adrenogenital syndrome. Family study (author's transl)]. 1980

J del Mazo, and M J Martín, and J A Abrisqueta, and V Aller, and M A Martín-Lucas, and A Pérez-Castillo, and M L de Torres

An 8:10 translocation was found in a 15-day-old female child affected with adrenogenital syndrome. Some other members of the family also showed the same chromosomal anomaly. By G-, Q- and T-banding, break and fusion points were determined at the level of 8q21 and 10q24 bands. The hormone and enzymatic tests carried out in all the members of the family revealed a 21-hydroxylase deficiency only in the proposita. Possible relationship between the manifestation of syndrome and chromosomal anomaly are discussed.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
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
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
D002906 Chromosomes, Human, 6-12 and X The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome. Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006899 Mixed Function Oxygenases Widely distributed enzymes that carry out oxidation-reduction reactions in which one atom of the oxygen molecule is incorporated into the organic substrate; the other oxygen atom is reduced and combined with hydrogen ions to form water. They are also known as monooxygenases or hydroxylases. These reactions require two substrates as reductants for each of the two oxygen atoms. There are different classes of monooxygenases depending on the type of hydrogen-providing cosubstrate (COENZYMES) required in the mixed-function oxidation. Hydroxylase,Hydroxylases,Mixed Function Oxidase,Mixed Function Oxygenase,Monooxygenase,Monooxygenases,Mixed Function Oxidases,Function Oxidase, Mixed,Function Oxygenase, Mixed,Oxidase, Mixed Function,Oxidases, Mixed Function,Oxygenase, Mixed Function,Oxygenases, Mixed Function
D000312 Adrenal Hyperplasia, Congenital A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. Congenital Adrenal Hyperplasia,Hyperplasia, Congenital Adrenal,Adrenal Hyperplasias, Congenital,Congenital Adrenal Hyperplasias,Hyperplasias, Congenital Adrenal
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

Related Publications

J del Mazo, and M J Martín, and J A Abrisqueta, and V Aller, and M A Martín-Lucas, and A Pérez-Castillo, and M L de Torres
[Does inherited balanced translocation produce phenotypic effects? (author's transl)].
December 1981, Zhonghua yi xue za zhi,
J del Mazo, and M J Martín, and J A Abrisqueta, and V Aller, and M A Martín-Lucas, and A Pérez-Castillo, and M L de Torres
[Ovarian gonadoblastoma, hemi-atrophy and balanced autosomal translocation (author's transl)].
January 1981, Archives d'anatomie et de cytologie pathologiques,
J del Mazo, and M J Martín, and J A Abrisqueta, and V Aller, and M A Martín-Lucas, and A Pérez-Castillo, and M L de Torres
[Pregnancy with adrenogenital syndrome causing working incapacity (author's transl)].
July 1973, Ceskoslovenska gynekologie,
J del Mazo, and M J Martín, and J A Abrisqueta, and V Aller, and M A Martín-Lucas, and A Pérez-Castillo, and M L de Torres
[Recurrent Pierre-Robin syndrome in a family with translocation (author's transl)].
June 1974, Jinrui idengaku zasshi. The Japanese journal of human genetics,
J del Mazo, and M J Martín, and J A Abrisqueta, and V Aller, and M A Martín-Lucas, and A Pérez-Castillo, and M L de Torres
[Partial trisomy 13 in a family with balanced translocation (13 q-;16 q plus) (author's transl)].
June 1974, Monatsschrift fur Kinderheilkunde,
J del Mazo, and M J Martín, and J A Abrisqueta, and V Aller, and M A Martín-Lucas, and A Pérez-Castillo, and M L de Torres
[Present state of diagnosis and treatment of the adrenogenital syndrome (author's transl)].
November 1975, Klinische Padiatrie,
J del Mazo, and M J Martín, and J A Abrisqueta, and V Aller, and M A Martín-Lucas, and A Pérez-Castillo, and M L de Torres
[Angiographic exploration of adrenogenital syndromes (author's transl)].
May 1979, Annales de radiologie,
J del Mazo, and M J Martín, and J A Abrisqueta, and V Aller, and M A Martín-Lucas, and A Pérez-Castillo, and M L de Torres
[Family occurrence of translocation DqDqt (13q 14q) (author's transl)].
May 1974, Sbornik lekarsky,
J del Mazo, and M J Martín, and J A Abrisqueta, and V Aller, and M A Martín-Lucas, and A Pérez-Castillo, and M L de Torres
[Brain tumor family syndrome (author's transl)].
June 1981, ZFA. Zeitschrift fur Allgemeinmedizin,
J del Mazo, and M J Martín, and J A Abrisqueta, and V Aller, and M A Martín-Lucas, and A Pérez-Castillo, and M L de Torres
[Urinary excretion of steroids in congenital adrenogenital syndrome with successful pregnancy (author's transl)].
August 1977, Sbornik lekarsky,
Copied contents to your clipboard!