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Female with 46, XY karyotype
Eun Jung Jung, Do Hwa Im, Yong Hee Park, Jung Mi Byun, Young Nam Kim, Dae Hoon Jeong, Moon Su Sung, Ki Tae Kim, Hyo Jung An, Soo Jin Jung, Kyung Bok Lee
Obstet Gynecol Sci. 2017;60(4):378-382.   Published online July 14, 2017
DOI: https://doi.org/10.5468/ogs.2017.60.4.378

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A phenotypically Turner-like female with karyotype 45,X/46,XY gonadoblastoma and fluorescent Y
Human Genetics. 1974;24(4):309-318   Crossref logo
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Smith-Lemli-Opitz syndrome associated with Hirschsprung disease, 46,XY female karyotype, and total anomalous pulmonary venous drainage
The Journal of Pediatrics. 1985;106(5):861   Crossref logo
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46,XY/47,XY,+ 17p+ mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype
Prenatal Diagnosis. 1993;13(7):637-642   Crossref logo
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Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY, +i(8p)/46,XY
Clinical Genetics. 2008;34(3):201-203   Crossref logo
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Follow-up 20 years later of 34 Klinefelter males with karyotype 47,XXY and 16 hypogonadal males with karyotype 46,XY
Human Genetics. 1987;77(2):188-192   Crossref logo
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45,X/46,XY qh− Karyotype and Aspermia. A case report
Cytology and Genetics. 2012;46(4):217-219   Crossref logo
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A phenotypic male with true hermaphroditism and a 46,XX/46,XY/ 47,XXY karyotype
Clinical Genetics. 2008;31(4):243-248   Crossref logo
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Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature
Molecular Cytogenetics. 2018;11(1):   Crossref logo
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Patient with XY Karyotype and Female Phenotype: Description and Psychological Implications
Australasian Psychiatry. 2003;11(2):231-234   Crossref logo
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Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/
American Journal of Medical Genetics Part A. 2011;155(5):1129-1135   Crossref logo
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