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1. Full Text Genetic considerations in the patient with Turner syndrome—45,X with or without mosaicism
by Zhong, Quincy, B.S and Layman, Lawrence C., M.D
Fertility and Sterility, ISSN 0015-0282, 2012, Volume 98, Issue 4, pp. 775 - 779
Turner syndrome (TS) is a complex developmental disorder in individuals with short stature who possess a 45,X cell line, with or without mosaicism. Because the... 
Internal Medicine | Obstetrics and Gynecology | REPRODUCTIVE BIOLOGY | Y-CHROMOSOME | 45,X | PHENOTYPE | 45,X/46,XY MOSAICISM | GONADAL-DYSGENESIS | MUTATIONS | GONADOBLASTOMA | PRENATAL-DIAGNOSIS | OVARIAN FAILURE | PREGNANCY | OBSTETRICS & GYNECOLOGY | Genetic Predisposition to Disease - genetics | Phenotype | Turner Syndrome - epidemiology | Chromosomes, Human, X - genetics | Humans | Risk Factors | Turner Syndrome - genetics | Female | Mosaicism | Genetic Predisposition to Disease - epidemiology | Fluorescence | Pornography | Turner syndrome | Analysis | Genes
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2. Full Text Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents
by Weidler, Erica M and Pearson, Margaret and van Leeuwen, Kathleen and Garvey, Erin
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
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3. Full Text A Novel Sex Chromosome Mosaicism 45, X/45, Y/46, XY/46, YY/47, XYY Causing Ambiguous Genitalia
by Khan, Muhammad Riaz and Bukhari, Ihtisham and Junxiang, Tang and Hui, Liu and Muhammad, Niaz and Fan, Cui and Zhu, Jiangsheng and Wu, Mian
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
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4. Full Text Clinical aspects of 49 infertile males with 45,X/46,XY mosaicism karyotype: A case series
by Mohammadpour Lashkari, F and Sadighi Gilani, M. A and Ghaheri, A and Zamanian, M. R and Borjian Boroujeni, P and Mohseni Meybodi, A and Sabbaghian, M
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
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5. Full Text Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism
by Pan, LL and Su, Z and Song, JM and Xu, WH and Liu, X and Zhang, LJ and Li, SL and Shenzhen Children's Hosp and multidisciplinary collaboration team of DSD management at Shenzhen Children’s Hospital and on behalf of the multidisciplinary collaboration team of DSD management at Shenzhen Children’s Hospital
BMC PEDIATRICS, ISSN 1471-2431, 05/2019, Volume 19, Issue 1, pp. 143 - 7
BackgroundThe aim of this study was to review the growth data, gonadal function and tumour risk of children and adolescents with 45,X/46,XY mosaicism who... 
Gonadoblastoma | CHROMOSOMAL MOSAICISM | MANAGEMENT | Growth | DISORDERS | PUBERTAL CHANGES | IDENTIFICATION | Gonadal dysgenesis | 45,X/46,XY mosaicism | PATTERN | GERM-CELLS | FREQUENCY | GONADAL-DYSGENESIS | PEDIATRICS | Complications and side effects | Genetic aspects | Chromosome abnormalities | Research | Risk factors | Tumors | Genetic disorders | Histology | Teenagers | Males | Chromosomes | Patients | Age
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6. Full Text A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism
by Akinsal, Emre Can and Baydilli, Numan and Bayramov, Ruslan and Ekmekcioglu, Oguz
Urologia Internationalis, ISSN 0042-1138, 11/2018, Volume 101, Issue 4, pp. 481 - 485
Objective: To present the clinical, chromosomal, and endocrinological features of 8 infertile male cases with the 45,X/46,XY karyotype who were admitted to our... 
Case Report | 45,X/46,XY karyotype | Genetics | Mosaicism | Azoospermia | Male infertility | RING Y-CHROMOSOME | PHENOTYPE | UROLOGY & NEPHROLOGY | GONADAL-DYSGENESIS | MEIOTIC BEHAVIOR | Body Mass Index | Semen | Humans | Semen Analysis | Male | Chromosomes, Human, X | Chromosomes, Human, Y | Phenotype | Infertility, Male - genetics | Testis - pathology | Sex Chromosome Aberrations | Biopsy | Karyotyping | Azoospermia - genetics | Adult | Retrospective Studies
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7. Full Text 37,X/38,XY Mosaicism in a Cryptorchid Bengal Cat with Müllerian Duct Remnants
by Balogh, Orsolya and Berger, Alice and Pieńkowska-Schelling, Aldona and Willmitzer, Florian and Grest, Paula and Janett, Fredi and Schelling, Claude and Reichler, Iris M
Sexual Development, ISSN 1661-5425, 03/2016, Volume 9, Issue 6, pp. 327 - 332
A 23-month-old tomcat was referred to our clinic because of male behavioral problems, cryptorchidism, and an undefined intra-abdominal organ resembling a... 
Short Report | Intersex | Testis | Tomcat | Male | Sex chromosome DSD | SRY | Karyotype | MALE TORTOISESHELL CATS | INHIBITING SUBSTANCE | 45,X/46,XY MOSAICISM | DISORDERS | DEVELOPMENTAL BIOLOGY | HORMONE | DOGS | SEX DETERMINATION | GONADAL-DYSGENESIS | DIFFERENTIATION | DOMESTIC CAT | Cryptorchidism - veterinary | Sex Chromosome Disorders of Sex Development - veterinary | Cats | Testis - abnormalities | Cryptorchidism - pathology | In Situ Hybridization, Fluorescence | Sex Chromosome Disorders of Sex Development - genetics | Cat Diseases - genetics | Mullerian Ducts - abnormalities | Animals | Cat Diseases - pathology | Mosaicism | Sex Chromosome Disorders of Sex Development - pathology | Cryptorchidism - genetics
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8. Full Text Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience
by Coyle, David and Kutasy, Balazs and Han Suyin, Kathleen and Antao, Brice and Lynch, Sally Ann and McDermott, Michael B and O'Connell, Susan M and Quinn, Feargal
Journal of Pediatric Urology, ISSN 1477-5131, 2016, Volume 12, Issue 5, pp. 283.e1 - 283.e7
Summary Background It is recognised that individuals with a 45,X/46,XY karyotype, known as Turner mosaic syndrome with Y chromosome material (TMSY), have an... 
Pediatrics | Urology | Gonadal dysgenesis | Gonadoblastoma | Mosaic | 45,X/46,XY | Turner | Gonadectomy | RISK | Y-CHROMOSOME SEQUENCES | TUMORS | TSPY | TURNER-SYNDROME PATIENTS | UROLOGY & NEPHROLOGY | GONADAL-DYSGENESIS | PEDIATRICS | Testicular Neoplasms - genetics | Gonadoblastoma - complications | Humans | Child, Preschool | Infant | Male | Ovarian Neoplasms - complications | Testicular Neoplasms - complications | Ovarian Neoplasms - genetics | Gonadoblastoma - genetics | Adolescent | Turner Syndrome - complications | Turner Syndrome - genetics | Female | Mosaicism | Retrospective Studies | Child | Infant, Newborn | Care and treatment | Chromosomes | Germ cell tumors | Histochemistry | Medical genetics
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9. Full Text The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism
by Wu, Qinghua and Wang, Cong and Shi, Huirong and Kong, Xiangdong and Ren, Shumin and Jiang, Miao
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
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10. Full Text The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center
by Huang, Yen-Chun and Lee, Cheng-Ting and Wu, Mu-Zon and Liu, Shih-Yao and Tung, Yi-Ching and Ho, Hong-Nerng and Tsai, Wen-Yu
Journal of the Formosan Medical Association, ISSN 0929-6646, 01/2019, Volume 118, Issue 1, pp. 450 - 456
45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children. We enrolled 19... 
Gonadoblastoma | 45,X/46,XY mosaicism | Mixed gonadal dysgenesis | Turner syndrome | Growth hormone therapy | MANAGEMENT | STANDARDS | HEIGHT | TUMORS | WOMEN | MEDICINE, GENERAL & INTERNAL | MALFORMATIONS | GROWTH | MIXED GONADAL-DYSGENESIS | Disorders of Sex Development - drug therapy | Humans | Child, Preschool | Infant | Male | Disorders of Sex Development - genetics | Gonadal Dysgenesis, Mixed - genetics | Body Height - genetics | Gonadoblastoma - genetics | Growth Hormone - therapeutic use | Karyotyping | Adolescent | Taiwan | Turner Syndrome - genetics | Female | Mosaicism | Child | Germ cell tumors | Research
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11. Full Text Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism
by Dendrinos, Melina L., MD and Smorgick, Noam, MD, MSc and Marsh, Courtney A., MD, MPH and Smith, Yolanda R., MD, MS and Quint, Elisabeth H., MD
Journal of Pediatric and Adolescent Gynecology, ISSN 1083-3188, 2015, Volume 28, Issue 3, pp. 192 - 195
Abstract Study Objective To estimate the overall frequency of gonadal tumors in patients with 45,X/46,XY mosaicism who underwent gonadectomy and to determine... 
Pediatrics | Obstetrics and Gynecology | Gonadoblastoma | 45,X/46,XY mosaicism | Disorders of sex development | MANAGEMENT | GERM-CELL TUMORS | CARCINOMA INSITU | PHENOTYPE | TURNER-SYNDROME | CHILDREN | OBSTETRICS & GYNECOLOGY | TESTIS | NEOPLASIA | GONADAL-DYSGENESIS | PEDIATRICS | Ovarian Neoplasms - genetics | Testicular Neoplasms - genetics | Gonadoblastoma - genetics | Gonadal Dysgenesis, 46,XY - surgery | Virilism - genetics | Gonadal Dysgenesis, 46,XY - genetics | Humans | Female | Male | Mosaicism | Retrospective Studies | Karyotype
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12. Full Text 45,X/46,XY Mosaicism: Report of 27 Cases
by Telvi, Louise and Lebbar, Aziza and Del Pino, Olivia and Barbet, Jacques Patrick and Chaussain, Jean Louis
Pediatrics, ISSN 0031-4005, 08/1999, Volume 104, Issue 2, pp. 304 - 308
Objectives. There exist substantial differences between prenatally and postnatally diagnosed cases of 45,X/46,XY mosaicism. Ninety percent of prenatally... 
45,X/46,XY mosaicism | Y chromosome abnormalities | Mixed gonadal dysgenesis | Turner syndrome | Sex determination | Male pseudohermaphroditism | male pseudohermaphroditism | PHENOTYPE | PEDIATRICS | mixed gonadal dysgenesis | MIXED GONADAL-DYSGENESIS | DIFFERENTIATION | KARYOTYPE | sex determination | Phenotype | Sex Chromosome Aberrations | Y Chromosome | Humans | Karyotyping | Turner Syndrome - genetics | Male | Mosaicism | Disorders of Sex Development - genetics | Gonadal Dysgenesis, Mixed - genetics | Case studies | Health aspects | Sex differentiation disorders | Babies | Risk | Genetics | Prenatal development | Reproductive system | Medical diagnosis | Physical growth
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13. Full Text The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis
by Hatano, Megumi and Fukuzawa, Ryuji and Hasegawa, Yukihiro
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
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14. Full Text Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies
by Farrugia, M.K and Sebire, N.J and Achermann, J.C and Eisawi, A and Duffy, P.G and Mushtaq, I
Journal of Pediatric Urology, ISSN 1477-5131, 2012, Volume 9, Issue 2, pp. 139 - 144
Abstract Objective The 45,X/46,XY and 45,X/47,XYY group of patients includes some of those previously diagnosed with ‘mixed gonadal dysgenesis’. Our aim was to... 
Pediatrics | Urology | 45,X/47,XYY | Disorder of sex development | Streak gonad | Mixed gonadal dysgenesis | Chromosomal mosaicism | Dysgenetic gonad | 45,X/46,XY | Ambiguous genitalia | GERM-CELL TUMORS | PHENOTYPE | DISORDERS | Y-CHROMOSOME | TESTIS | SEX DETERMINATION | DYSGENESIS | UROLOGY & NEPHROLOGY | PEDIATRICS | STREAK GONADS | SPECTRUM | GONADOBLASTOMA | XYY Karyotype - pathology | Sex Chromosome Disorders - pathology | Humans | Child, Preschool | Gonadal Dysgenesis, 46,XY - pathology | Infant | Male | Disorders of Sex Development - genetics | Gonadal Dysgenesis, Mixed - genetics | Gonadal Dysgenesis, Mixed - pathology | Phenotype | Disorders of Sex Development - pathology | XYY Karyotype - genetics | Gonadal Dysgenesis, 46,XY - genetics | Turner Syndrome - genetics | Female | Mosaicism | Retrospective Studies | Sex Chromosome Disorders - genetics | Infant, Newborn | Databases, Factual | Turner Syndrome - pathology | Children's hospitals | 45,X | 47,XYY | 46,XY
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15. Full Text Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth
by Bertelloni, Silvano and Baroncelli, Giampiero I and Massart, Francesco and Toschi, Benedetta
Sexual Development, ISSN 1661-5425, 11/2015, Volume 9, Issue 4, pp. 183 - 189
45,X/46,XY mosaicism is a rare sex chromosome disorder of sex development. Short stature is a main feature of boys with this condition. Different causes likely... 
Review Article | Y-chromosomal growth gene(s) | Treatment | Mixed gonadal dysgenesis | Growth | Mosaicism 45,X/46,XY | Short stature | SHOX | Growth hormone | FINAL HEIGHT | PHENOTYPE | DISORDERS | SHOX DEFICIENCY | DEVELOPMENTAL BIOLOGY | TURNER-SYNDROME | CHILDREN | Y-CHROMOSOME | KARYOTYPE | CONSENSUS STATEMENT | MALES | Growth Disorders - drug therapy | Humans | Risk Factors | Hypospadias - genetics | Male | Human Growth Hormone - adverse effects | Insulin-Like Growth Factor I - analysis | Disorders of Sex Development - genetics | Testicular Neoplasms - chemically induced | Human Growth Hormone - therapeutic use | Phenotype | Turner Syndrome - physiopathology | Adolescent | Body Height | Mosaicism | Growth Disorders - genetics | Child | Gonadal Dysgenesis, 46,XY - physiopathology
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16. Full Text Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia
by Serra, Alexandre and Denzer, Friederike and Hiort, Olaf and Barth, Thomas F and Henne-Bruns, Doris and Barbi, Gotthold and Rettenberger, Günther and Wabitsch, Martin and Just, Walter and Leriche, Clothilde
Sexual Development, ISSN 1661-5425, 08/2015, Volume 9, Issue 3, pp. 136 - 143
Disorders of sex development (DSD) affect the development of chromosomal, gonadal and/or anatomical sex. We analyzed a patient with ambiguous genitalia aiming... 
Original Article | Uniparental disomy | Disorders of sex development | Somatic mosaicism 45 X/46 XY/46 XX | Ambiguous genitalia | HUMAN CHIMERA | FERTILIZATION | MECHANISM | 46,XX/46,XY HERMAPHRODITE | DEVELOPMENTAL BIOLOGY | KARYOTYPE | TRUE HERMAPHRODITISM | Somatic mosaicism 45,X/46,XY/46,XX | PRENATAL-DIAGNOSIS | Chromosomes, Human, Y - genetics | Chromosomes, Human, X - genetics | Uniparental Disomy - genetics | Humans | Cystoscopy | Disorders of Sex Development - surgery | Polymorphism, Single Nucleotide - genetics | In Situ Hybridization, Fluorescence | Mosaicism | Disorders of Sex Development - genetics | Preoperative Care | Microsatellite Repeats - genetics
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17. 45,X/46,XY mosaicism: A cause of short stature in males
by Efthymiadou, Alexandra and Stefanou, Eunice G and Chrysis, Dionisios
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
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18. Full Text Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
by Sybert, V P
Journal of Medical Genetics, ISSN 0022-2593, 03/2002, Volume 39, Issue 3, pp. 217 - 221
WOMEN | X-CHROMOSOME | GENETICS & HEREDITY | GONADAL-DYSGENESIS | 45,X/46,XY MOSAICISM | XO/XX/XXX-MOSAICISM | PATIENT | 45,X-47,XXX KARYOTYPE | SEX-CHROMOSOME ABNORMALITIES | PRENATAL-DIAGNOSIS | ANDROGEN THERAPY | Cell Line | Humans | Middle Aged | Child, Preschool | Aneuploidy | Infant | Ovary - physiology | Body Height - genetics | Pregnancy | Fertility - genetics | Phenotype | Karyotyping | Turner Syndrome - physiopathology | Adolescent | Aged, 80 and over | Turner Syndrome - genetics | Adult | Female | Aged | Mosaicism - genetics | Child | X Chromosome - genetics | Infant, Newborn | Letter to JMG
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19. Full Text Azoospermia and 45,X/46,XY chromosomal mosaicism: A case report
by Le Chatton, M and Zaccabri, A and Agopiantz, M and Leheup, B and Weryha, G and Foliguet, B
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
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20. Full Text Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias
by Barone, Chiara and Bartoloni, Giovanni and Cataliotti, Antonella and Indaco, Lara and Pappalardo, Elisa and Barrano, Barbara and Ettore, Giuseppe and Bianca, Sebastiano
Archives of Gynecology and Obstetrics, ISSN 0932-0067, 8/2011, Volume 284, Issue 2, pp. 509 - 511
45,X/46,XY mosaicism is an uncommon chromosomal anomaly with a range of phenotypes from normal males to cases of multiple congenital anomalies.We report a case... 
Human Genetics | 45,X/46,XY mosaicism | Cleft lip | Medicine & Public Health | Epispadias | Gynecology | Prenatal diagnosed | Obstetrics/Perinatology | Endocrinology | COMPLEX | PALATE | EXSTROPHY | OBSTETRICS & GYNECOLOGY | Fetal Diseases - genetics | Ultrasonography, Prenatal | Humans | Abnormalities, Multiple | Cleft Lip - diagnostic imaging | Male | Mosaicism | Fetal Diseases - diagnostic imaging | Pregnant women | Prenatal development | Index Medicus
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