Turner's syndrome with a duplication-deficiency X chromosome derived from a maternal pericentric inversion X chromosome. 1979

T Maeda, and M Ohno, and M Takada, and M Nishida, and K Tsukioka, and H Tomita

A 31-year-old woman of short stature with severe oligomenorrhea was found to carry a duplication-deficiency X chromosome, 46,X,rec(X)dup q,inv(X)(p22q11), inherited from her mother who carried a pericentric inversion X chromosome, 46,X,inv(X)(p22q11). By a combination of autoradiography and BUdR incorporation, the duplication-deficiency X chromosome was always found to be the inactive and late replicating one. In the cultured fibroblasts with the recombinant X chromosome, some of the cells were seen to have bipartite X chromatin bodies. In the mother with inv(X), the normal and the inverted X chromosome were inactivated at random.

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
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
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
D005260 Female Females
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
D012730 Sex Chromosomes The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed) Gonosomes,Chromosome, Sex,Chromosomes, Sex,Gonosome,Sex Chromosome
D014424 Turner Syndrome A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. Bonnevie-Ullrich Syndrome,Gonadal Dysgenesis, 45,X,Gonadal Dysgenesis, XO,Monosomy X,Status Bonnevie-Ullrich,Turner's Syndrome,Ullrich-Turner Syndrome,Bonnevie Ullrich Syndrome,Status Bonnevie Ullrich,Syndrome, Ullrich-Turner,Turners Syndrome,Ullrich Turner Syndrome,XO Gonadal Dysgenesis
D014960 X Chromosome The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species. Chromosome, X,Chromosomes, X,X Chromosomes

Related Publications

T Maeda, and M Ohno, and M Takada, and M Nishida, and K Tsukioka, and H Tomita
July 1971, Annals of human genetics,
T Maeda, and M Ohno, and M Takada, and M Nishida, and K Tsukioka, and H Tomita
September 1968, Annales de genetique,
T Maeda, and M Ohno, and M Takada, and M Nishida, and K Tsukioka, and H Tomita
July 1980, Clinical genetics,
T Maeda, and M Ohno, and M Takada, and M Nishida, and K Tsukioka, and H Tomita
November 2004, European journal of pediatrics,
T Maeda, and M Ohno, and M Takada, and M Nishida, and K Tsukioka, and H Tomita
July 2024, Clinical dysmorphology,
T Maeda, and M Ohno, and M Takada, and M Nishida, and K Tsukioka, and H Tomita
May 1994, American journal of medical genetics,
T Maeda, and M Ohno, and M Takada, and M Nishida, and K Tsukioka, and H Tomita
April 1980, Annales de pediatrie,
T Maeda, and M Ohno, and M Takada, and M Nishida, and K Tsukioka, and H Tomita
July 1988, Human genetics,
T Maeda, and M Ohno, and M Takada, and M Nishida, and K Tsukioka, and H Tomita
January 1986, Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion,
T Maeda, and M Ohno, and M Takada, and M Nishida, and K Tsukioka, and H Tomita
September 1987, Anales espanoles de pediatria,
Copied contents to your clipboard!