45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases. 1991

M J Pettenati, and M Wheeler, and D J Bartlett, and I Subrt, and N Rao, and R L Kroovand, and B K Burton, and S Kahler, and H K Park, and P Cosper
Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina 27103.

45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
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
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000649 Amniocentesis Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions. Amniocenteses
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

Related Publications

M J Pettenati, and M Wheeler, and D J Bartlett, and I Subrt, and N Rao, and R L Kroovand, and B K Burton, and S Kahler, and H K Park, and P Cosper
June 1977, Journal of medical genetics,
M J Pettenati, and M Wheeler, and D J Bartlett, and I Subrt, and N Rao, and R L Kroovand, and B K Burton, and S Kahler, and H K Park, and P Cosper
November 2009, American journal of medical genetics. Part A,
M J Pettenati, and M Wheeler, and D J Bartlett, and I Subrt, and N Rao, and R L Kroovand, and B K Burton, and S Kahler, and H K Park, and P Cosper
March 1978, Human genetics,
M J Pettenati, and M Wheeler, and D J Bartlett, and I Subrt, and N Rao, and R L Kroovand, and B K Burton, and S Kahler, and H K Park, and P Cosper
December 1970, Journal of medical genetics,
M J Pettenati, and M Wheeler, and D J Bartlett, and I Subrt, and N Rao, and R L Kroovand, and B K Burton, and S Kahler, and H K Park, and P Cosper
June 1989, Nihon Sanka Fujinka Gakkai zasshi,
M J Pettenati, and M Wheeler, and D J Bartlett, and I Subrt, and N Rao, and R L Kroovand, and B K Burton, and S Kahler, and H K Park, and P Cosper
January 1974, Acta paediatrica Academiae Scientiarum Hungaricae,
M J Pettenati, and M Wheeler, and D J Bartlett, and I Subrt, and N Rao, and R L Kroovand, and B K Burton, and S Kahler, and H K Park, and P Cosper
February 1997, Clinical genetics,
M J Pettenati, and M Wheeler, and D J Bartlett, and I Subrt, and N Rao, and R L Kroovand, and B K Burton, and S Kahler, and H K Park, and P Cosper
June 1973, Annales de genetique,
M J Pettenati, and M Wheeler, and D J Bartlett, and I Subrt, and N Rao, and R L Kroovand, and B K Burton, and S Kahler, and H K Park, and P Cosper
January 1990, American journal of human genetics,
M J Pettenati, and M Wheeler, and D J Bartlett, and I Subrt, and N Rao, and R L Kroovand, and B K Burton, and S Kahler, and H K Park, and P Cosper
September 1972, Annales de genetique,
Copied contents to your clipboard!