- 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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- A Case of Male Infertility with a Reciprocal Translocation t(X;14)(p11.4;p12)
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Hwang SH, Lee SM, Seo EJ, Choi KU, Park HJ, Park NC, Choi J, Lee EY
- KMID: 1781474
- Korean J Lab Med.
- 2007 Apr;27(2):139-142.
- doi: 10.3343/kjlm.2007.27.2.139
A chromosomal abnormality was found in about 3.6-7.6% of males presenting with azoospermia or oligospermia. Translocations between X chromosome and autosomes are rarely seen genetic disorders that cause male infertility.... -
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- Molecular Analysis of X-linked Chronic Granulomatous Disease in Five Unrelated Korean Patients
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Oh HB, Park JS, Lee W, Yoo SJ, Yang JH, Oh SY
- KMID: 1733480
- J Korean Med Sci.
- 2004 Apr;19(2):218-222.
- doi: 10.3346/jkms.2004.19.2.218
Chronic granulomatous disease (CGD) is a fatal genetic disorder in which phagocytes fail to produce antimicrobial superoxide because of NADPH oxidase deficiency. Molecular defects in CYBB gene causing X-linked CGD... -
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- A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome
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Cho EH, Kim SY, Kim JK
- KMID: 1778839
- J Korean Med Sci.
- 2012 Oct;27(10):1273-1277.
- doi: 10.3346/jkms.2012.27.10.1273
Terminal or interstitial deletions of Xp (Xp22.2-->Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill... -
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