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Seminars in Pediatric Surgery, ISSN 1055-8586, 10/2019, Volume 28, Issue 5, p. 150841
Individuals born on the spectrum of genetic abnormalities known as mixed gonadal dysgenesis (MGD) have a wide range of anatomical findings and management can... 
Mosaicism | Mixed gonadal dysgenesis | Chromosomal abnormality | Gonads | Malignancy risk | Gonadectomy | SURGERY | DIAGNOSIS | GERM-CELL TUMORS | 45,X/46,XY MOSAICISM | DISORDERS | OVARIAN CONSERVATION | ANDROGEN INSENSITIVITY SYNDROME | WOMEN | Y-CHROMOSOME | SEX DEVELOPMENT | PEDIATRICS | GONADOBLASTOMA
Journal Article
Annals of Clinical and Laboratory Science, ISSN 0091-7370, 11/2017, Volume 47, Issue 6, pp. 761 - 764
Sex chromosomal mosaicism has been considered as a major cause of human sexual differentiation disorders, like partial virilization and ambiguous genitalia.... 
Sex chromosome mosaicism | 45, X/45, Y/46, XY/46, YY/47, XYY | Ambiguous genitalia | Sex Chromosome Mosaicism | PHENOTYPIC FEMALE | Ambiguous Genitalia | X/45 | Y/46 | XY/46 | 45,X/47,XYY MOSAICISM | Y-CHROMOSOME | XYY | KARYOTYPE | MEDICAL LABORATORY TECHNOLOGY | YY/47 | 45,X/46,XY
Journal Article
Andrologia, ISSN 0303-4569, 06/2018, Volume 50, Issue 5, pp. e13009 - n/a
Summary Disorders of sex development (DSD) are congenital abnormalities as an atypical development process in either gonadal or chromosomal structure. It is... 
male infertility | 45,X/46,XY | assisted reproductive techniques | mosaicism | STATURE | ANDROLOGY | ABNORMALITIES | MEN | DISORDERS | Y-CHROMOSOME MICRODELETIONS | Chromosomes | Pregnancy | Neonates | Reproduction | Clinical aspects | Genitalia | Phenotypes | Cell lines | Mosaicism | Y Chromosomes | Males
Journal Article
Urologia Internationalis, ISSN 0042-1138, 11/2018, Volume 101, Issue 4, pp. 481 - 485
Journal Article
Sexual Development, ISSN 1661-5425, 05/2017, Volume 11, Issue 2, pp. 64 - 69
45, X/46, XY mosaicism is a rare chromosomal abnormality and probably underdiagnosed. Although clinical and genetic analyses have been performed in some... 
Mixed gonadal dysgenesis | Y chromosome microdeletion | 45,X/46,XY mosaicism | DISCORDANT | Y-CHROMOSOME | PHENOTYPIC SEX | DISORDERS | DEVELOPMENTAL BIOLOGY | TURNER-SYNDROME | SHORT STATURE | MONOZYGOTIC TWINS | Genetic research | Reproductive organs
Journal Article
Sexual Development, ISSN 1661-5425, 06/2018, Volume 12, Issue 4, pp. 175 - 179
Some patients with mixed gonadal dysgenesis (MGD), whose prototypical karyotype is 45,X/46,XY, are known to manifest complications characteristic of Turner... 
Aortic coarctation | Mosaicism | CISH | Mixed gonadal dysgenesis | Y-CHROMOSOME | 45,X/46,XY MOSAICISM | DEVELOPMENTAL BIOLOGY | PREVALENCE | CHILD | CELL-LINE | Congenital heart disease | Genetic aspects | Chromosomes | Analysis
Journal Article
Journal Article
Hormones, ISSN 1109-3099, 2012, Volume 11, Issue 4, pp. 501 - 504
45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual... 
Short stature | 45,X/46,XY mosaicism | Male | PHENOTYPIC SPECTRUM | ENDOCRINOLOGY & METABOLISM | CHILDREN | Growth Disorders - drug therapy | Growth Hormone - therapeutic use | Humans | Karyotyping | Adolescent | Learning Disorders - genetics | Mosaicism | Growth Disorders - genetics | Child | Gonadal Dysgenesis, Mixed - genetics
Journal Article
GYNECOLOGIE OBSTETRIQUE & FERTILITE, ISSN 1297-9589, 03/2013, Volume 41, Issue 3, pp. 203 - 206
Chromosomal abnormalities are common in patients with oligozoospermia or azoospermia. We report the case of a 32-year patient, with male phenotype, and without... 
Gonadal dysgenesis | PHENOTYPE | Azoospermia | Infertility | 45,X/46,XY | OBSTETRICS & GYNECOLOGY | Chromosomes, Human, Y - genetics | Chromosomes, Human, X - genetics | Gonadal Dysgenesis, 46,XY - genetics | Humans | Azoospermia - genetics | Turner Syndrome - genetics | Adult | Male | Mosaicism | Chromosome Disorders - genetics
Journal Article
Archives of Gynecology and Obstetrics, ISSN 0932-0067, 8/2011, Volume 284, Issue 2, pp. 509 - 511
Journal Article