Biomaterial Database

[Turner syndrome: mosaic and isochromosome q in a young African woman]. 1994

I Mensah-Ado, and M D Lauhbouet, and A Lokrou, and A Ehouman, and G Morlier

Laboratoire de Cytologie Clinique et Cytogénétique, Faculté de Médecine d'Abidjan, Côte d'Ivoire.

The authors describe the first case reported in Ivory Coast of an 18-year-old African girl for a small size and amenorrhea and failure to reach puberty. There was no dysmorphism. The uterus was infantile. X-ray examination of the skeleton revealed early osteoporosis and KOSOWICZ sign. Hormonal evaluation demonstrated hypertrophic hypogonadism. Diagnosis of TURNER's syndrome was confirmed by karyotype obtained by culture of peripheral blood and which was 46,Xi (Xq)/45,X, associating a mosaic and isochromosome q. Hormonal therapy induced menstruation and led to normal breast development. This case report confirms that these syndromes occur in Black Africa where diagnosis remains difficult due to the sophisticated facilities required.

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
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.
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
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
D018404	Isochromosomes	Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion.	Isochromosome