- Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review
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Ryu SW, Lee G, Baik CS, Shim SH, Kim JT, Lee JS, Lee KA
- KMID: 1096808
- Korean J Lab Med.
- 2010 Apr;30(2):195-200.
- doi: 10.3343/kjlm.2010.30.2.195
We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features... -
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- Incidence and Clinical Significance of Sex Chromosome Losses in Bone Marrow of Patients with Hematologic Diseases
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Huh J, Moon H, Chung WS
- KMID: 1121661
- Korean J Lab Med.
- 2007 Feb;27(1):56-61.
- doi: 10.3343/kjlm.2007.27.1.56
BACKGROUND: Loss of sex chromosomes in bone marrow is observed both in elderly persons as an aging phenomenon and in patients with hematologic malignancies. The purpose of this study... -
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- Detection of Y Chromosome Microdeletion is Valuable in the Treatment of Patients With Nonobstructive Azoospermia and Oligoasthenoteratozoospermia: Sperm Retrieval Rate and Birth Rate
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Choi DK, Gong IH, Hwang JH, Oh JJ, Hong JY
- KMID: 2316074
- Korean J Urol.
- 2013 Feb;54(2):111-116.
PURPOSE: We evaluated clinical characteristics, sperm retrieval rates, and birth rates in a relatively large number of infertile patients with Y chromosome microdeletions. MATERIALS AND METHODS: We retrospectively reviewed clinical data... -
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- Success Rate of Microsurgical Multiple Testicular Sperm Extraction and Sperm Presence in the Ejaculate in Korean Men With Y Chromosome Microdeletions
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Park SH, Lee HS, Choe JH, Lee JS, Seo JT
- KMID: 1840467
- Korean J Urol.
- 2013 Aug;54(8):536-540.
- doi: 10.4111/kju.2013.54.8.536
PURPOSE: We assessed the frequency of azoospermia factor a (AZFa), AZFb, and AZFc deletions and examined correlations between the deletion sites and the success rates of sperm presence within the... -
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- Detection of the Microdeletion on the Y Chromosome of Patients with Idiopathic Oligospermia or Azoospermia
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Kim MH
- KMID: 2239638
- Korean J Lab Med.
- 2002 Dec;22(6):452-456.
BACKGROUND: It has been proposed that the long arm of the human Y chromosome contains AZF (the azoospermia factor), the gene or genes that control spermatogenesis. In this study, I... -
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- Chromosomal aberrations in benign prostatic hyperplasia patients
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Altok M, Bagci O, Umul M, Gunes M, Akyuz M, Uruc F, Uz E, Soyupek S
- KMID: 2363123
- Investig Clin Urol.
- 2016 Jan;57(1):45-49.
- doi: 10.4111/icu.2016.57.1.45
PURPOSE: To investigate the chromosomal changes in patients with benign prostatic hyperplasia (BPH). MATERIALS AND METHODS: A total of 54 patients diagnosed with clinical BPH underwent transurethral prostate resection to address... -
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- A Case of 46,XY Pure Gonadal Dysgenesis with Loss of the Sex-Determining Region of Y Chromosome
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Yoon KH, Lee YJ
- KMID: 854850
- Korean J Lab Med.
- 2008 Apr;28(2):151-154.
- doi: 10.3343/kjlm.2008.28.2.151
A 23-yr-old phenotypic female was seen for primary amenorrhea. Her pubic hair was relatively well developed and external genitalia showed normal female appearance, but breast development was retarded. Transvaginal ultrasonographic... -
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- Loss of Y Chromosome in the Malignant Peripheral Nerve Sheet Tumor of a Patient with Neurofibromatosis Type 1
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Jeong SY, Park SJ, Lee SJ, Park HJ, Kim HJ
- KMID: 1713971
- J Korean Med Sci.
- 2010 May;25(5):804-808.
- doi: 10.3346/jkms.2010.25.5.804
Neurofibromatosis type 1 (NF1) is one of the most commonly inherited autosomal dominant disorders. In order to determine whether genomic alterations and/or chromosomal aberrations involved in the malignant progression of... -
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- Application of DNA chip techniques for Yq microdeletion analysis in infertile males
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Lee S, Joo HS, Lee SH, Park JE, Kim JM, Hwang JH, Cho KS, Hwang SY
- KMID: 1380213
- Exp Mol Med.
- 2004 Apr;36(2):179-184.
Our aim was to apply DNA chip technology as a diagnostic tool in infertility research and clinics. Six loci, including a sex-determining region on the Y chromosome and five sequence-tagged... -
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- Evaluation of a Multiplex PCR Kit Used for Detecting Y Chromosome Microdeletions
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Park MY, Kang HM, Hwang SH, Park HJ, Park NC, Choi KU, Kim HH, Chang CL, Lee EY
- KMID: 1781651
- Korean J Lab Med.
- 2010 Aug;30(4):432-439.
- doi: 10.3343/kjlm.2010.30.4.432
BACKGROUND: In addition to Klinefelter's syndrome, microdeletion of Yq is the most common genetic cause of male infertility; 15% of azoospermic or 5-10% of oligozoospermic males have Yq deletions. We... -
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