scholarly journals Genital Duct Development on Streak Gonad Side in Fifteen Children with 45, X and Y-containing Chromosome Mosaicism

1993 ◽  
Vol 2 (1) ◽  
pp. 27-32
Author(s):  
Yoshihiro Kakizawa ◽  
Reiko Ito ◽  
Itsuro Hibi ◽  
Ayako Tanae ◽  
Toshiaki Tanaka ◽  
...  
Keyword(s):  
Genital Duct ◽  
Chromosome Mosaicism ◽  
Duct Development

scholarly journals GENITAL DUCT DEVELOPMENT ON STREAK GONAD SIDE IN FIFTEEN CHILDREN WITH 45, X AND Y-CONTAINING CHROMOSOME MOSAICISM

1993 ◽  
Vol 33 ◽  
pp. S17-S17
Author(s):  
T Tanaka ◽  
I Hibi ◽  
Y Kakizawa ◽  
R Ito ◽  
A Tanae ◽  
...  
Keyword(s):  
Genital Duct ◽  
Chromosome Mosaicism ◽  
Duct Development

Cast titanium inlet duct development

1983 ◽  
Author(s):  
R. BURK ◽  
S. SCHWEDT
Keyword(s):  
Duct Development ◽  
Inlet Duct

Fluorescence In Situ Hybridization Analysis of Sex-Chromosome Mosaicism in Azoospermic Men

2001 ◽  
Vol 22 (6) ◽  
pp. 970-972 ◽  
Author(s):  
HIROSHI OKADA ◽  
MASAKI DOBASHI ◽  
TAKAFUMI YAMAZAKI ◽  
MASATO FUJISAWA ◽  
SOICHI ARAKAWA ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Sex Chromosome ◽  
Hybridization Analysis ◽  
Chromosome Mosaicism

scholarly journals X/XY Chromosome Mosaicism: Turner Syndrome and Other Clinical Conditions

2009 ◽  
Vol 63 (1-2) ◽  
pp. 1-4
Author(s):  
Irena Andriuškevičiūtė ◽  
Loreta Šalomskienė ◽  
Lina Jurkėnienė ◽  
Algimantas Sinkus
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Wide Spectrum ◽  
Normal Male ◽  
Chromosome Mosaicism ◽  
Lymphocyte Cultures ◽  
Nosological Entity ◽  
The One ◽  
Clinical Conditions ◽  
Pierre Robin

X/XY Chromosome Mosaicism: Turner Syndrome and Other Clinical Conditions The 45,X/46,XY mosaicism shows a wide spectrum of phenotypes ranging from females with Turner syndrome, male or female pseudohermaphroditism, to appearently normal male development. Chromosome anomalies accompanying Turner syndrome were found in lymphocyte cultures of 236 patients. Chromosomal analysis revealed the karyotype 45,X in 118 (50.0%) patients. X monosomy mosaics or structural rearrangements of the X chromosome was established in 112 (47.5%) patients. The Y chromosome was found in six (2.5%) patients with typical features of Turner syndrome. In five mosaics 45,X/46,XY the proportion of the XY clone ranged from 46% to 76%. In one Turner syndrome patient only 47,XYY cells were found (solely blood culture investigated). In most cases of 45,X/46,XY mosaicism, the cause is considered to be the loss of the Y chromosome because of nondisjunction after normal disomic fertilisation. Five other patients with X/XY chromosome mosaicism showed mixed gonadal dysgenesis (two patients), one male pseudohermafroditism, one male with Pierre Robin syndrome, and one normal male phenotype. In two non Turner syndrome patients nondisjunction of the primary clone 46,XY was obvious and resulted in mosaicism 45,X/46,XY/47,XYY, the one patient contained dicentric Y. The similarities between X/XY Turner syndrome and other nosological entity of females possessing Y chromosome — the Swyer syndrome — are discussed.

scholarly journals Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Weiyin Zhou ◽  
Shu-Hong Lin ◽  
Sairah M. Khan ◽  
Meredith Yeager ◽  
Stephen J. Chanock ◽  
...  
Keyword(s):  
X Chromosome ◽  
Gene Dosage ◽  
Large Population ◽  
Population Based ◽  
Chromosome X ◽  
Genotyping Array ◽  
Chromosome Mosaicism ◽  
Age Related ◽  
Leukocyte Function ◽  
Peripheral Leukocytes

AbstractAge-related male Y and female X chromosome mosaicism is commonly observed in large population-based studies. To investigate the frequency of male X chromosome mosaicism, we scanned for deviations in chromosome X genotyping array intensity data in a population-based survey of 196,219 UK Biobank men. We detected 12 (0.006%) men with mosaic chromosome X gains ≥ 2 Mb and found no evidence for mosaic chromosome X loss, a level of detection substantially lower than for autosomes or other sex chromosomes. The rarity of chromosome X mosaicism in males relative to females reflects the importance of chromosome X gene dosage for leukocyte function.

scholarly journals Gain-of-function β-catenin in the uterine mesenchyme leads to impaired implantation and decidualization

2017 ◽  
Vol 233 (1) ◽  
pp. 119-130 ◽  
Author(s):  
Amanda L Patterson ◽  
Jamieson Pirochta ◽  
Stephanie Y Tufano ◽  
Jose M Teixeira
Keyword(s):  
Epithelial Cell ◽  
Early Pregnancy ◽  
Embryo Implantation ◽  
Junctional Complex ◽  
Mullerian Duct ◽  
Mesenchymal Tumors ◽  
Gain Of Function ◽  
Müllerian Duct ◽  
Duct Development

Embryo implantation and endometrial decidualization are critical events that occur during early pregnancy in humans and mice, and perturbation in either can result in infertility. WNT signaling through the canonical β-catenin pathway plays a pivotal role in embryonic Müllerian duct development, postnatal uterine maturation and establishment of pregnancy. Loss of β-catenin in the Müllerian duct mesenchyme (MDM)-derived stroma and myometrium results in impaired decidualization and infertility, whereas gain-of-function (GOF) results in the formation of mesenchymal tumors and sub-fertility attributed to malformed oviducts. We hypothesized that GOF β-catenin further contributes to sub-fertility through improper stromal and epithelial cell signaling during embryo implantation and decidualization. We show that mice with GOF β-catenin in MDM-derived stroma and myometrium have reduced implantation sites after embryo transfer and decreased decidualization. On day 4.5 of pseudopregnancy or in mice treated with progesterone and estrogen to mimic early pregnancy, the estrogen–LIF–ERK and progesterone–IHH pathways remain predominantly intact in GOF β-catenin mice; however, JAK/STAT signaling is altered. pSTAT3 is significantly reduced in GOF β-catenin mice and expression of downstream epithelial junctional complex factors, Ctnna1 and Cldn1, is increased. We also show that purified stromal cells from GOF β-catenin uteri, when removed from epithelial cell influence and provided with the appropriate hormonal stimuli, are able to decidualize in vitro indicating that the cells are intrinsically capable of decidualization. Taken together, these results suggest that dysregulated β-catenin activity in the stroma affects epithelial cell STAT3 signaling and ultimately embryo implantation and stromal decidualization.

Wolffian Duct Development

2014 ◽  
Vol 8 (5) ◽  
pp. 273-280 ◽  
Author(s):  
Geoffrey Shaw ◽  
Marilyn B. Renfree
Keyword(s):  
Wolffian Duct ◽  
Duct Development

Sex-Chromosome Mosaicism of Type XYY/XO

1962 ◽  
Vol 266 (14) ◽  
pp. 699-702 ◽  
Author(s):  
Herbert L. Cooper ◽  
Herbert S. Kupperman ◽  
Orlando R. Rendon ◽  
Kurt Hirschhorn
Keyword(s):  
Sex Chromosome ◽  
Chromosome Mosaicism

Chromosome Mosaicism in a Mongol Born to a Young Mother

1963 ◽  
Vol 2 (2-3) ◽  
pp. 76-85 ◽  
Author(s):  
C.E. Blank ◽  
Mary Lord ◽  
M.D. Casey ◽  
B.M. Laurance
Keyword(s):  
Young Mother ◽  
Chromosome Mosaicism
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