Biomaterial Database

Two pregnancies and the loss of the 46,XX cell line in a 45,X/46,XX Turner mosaic patient. 1985

M M McCorquodale, and F C Bowdle

Two successful pregnancies in a patient with a 45,X karyotype are reported. Twelve pregnancies have been reported in 9 monosomy X patients and 57 pregnancies in 24 patients with both a 45,X and a 46,XX cell line. The patient reported here was diagnosed at 10 years of age as a Turner mosaic (45,X/46,XX), but showed no evidence of a normal cell line in any of the four tissues analyzed 15 years later. The difficulty in detecting mosaicism as well as the stability of autosomal and sex chromosomal mosaicism are discussed. An argument is made for early cytogenetic evaluation, utilizing multiple tissues, and analyzing an adequate number of cells.

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
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
D008297	Male		Males
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.
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D011248	Pregnancy Complications	Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases.	Adverse Birth Outcomes,Complications, Pregnancy,Adverse Birth Outcome,Birth Outcome, Adverse,Complication, Pregnancy,Outcome, Adverse Birth,Pregnancy Complication
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
D012728	Sex Chromatin	In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)	Barr Bodies,Chromatin, Sex,Bodies, Barr,Chromatins, Sex,Sex Chromatins