- The Prevelance of Microdeletion of Y Chromosome in Klinefelter's Syndrome
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Kim JW, Seo JT
- KMID: 2293507
- Korean J Urol.
- 2004 Aug;45(8):783-787.
Purpose: The prevalence of microdeletion of the Y chromosome is 13% in non-obstructive azoospermic patients. Klinefelter's syndrome may be found in about 11% of azoospermic patients. The prevalence and correlation... -
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- A Case of De Novo 18p Deletion Syndrome with SensorineuralHearing Loss: A case report
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Kim SH, Hong JY, Yim SY
- KMID: 2325199
- J Korean Acad Rehabil Med.
- 2008 Oct;32(5):591-594.
Chromosome 18p deletion syndrome is one of the most frequent autosomal abnormalities with more than 150 reported cases in the world and 7 reported cases in South Korea. Frequent clinical... -
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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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- Complete trisomy 14 mosaicism: first live-born case in Korea
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Hur YJ, Hwang T
- KMID: 2140716
- Korean J Pediatr.
- 2012 Oct;55(10):393-396.
- doi: 10.3345/kjp.2012.55.10.393
Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the... -
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- Mosaic Ring Chromosome 6 in an Infant with Significant Patent Ductus Arteriosus and Multiple Congenital Anomalies
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Lee SJ, Han DK, Cho HJ, Cho YK, Ma JS
- KMID: 1714209
- J Korean Med Sci.
- 2012 Aug;27(8):948-952.
- doi: 10.3346/jkms.2012.27.8.948
The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes.... -
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- A Case of Chromosome 7q34 Deletion in an Infant with Hypothalamic Hamartoma and Biliary Atresia
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Lee JK, Chung SH, Choi YS, Bae CW
- KMID: 2367038
- Perinatology.
- 2016 Dec;27(4):255-259.
- doi: 10.14734/PN.2016.27.4.255
The chromosome 7q terminal deletion is a rare chromosomal disorder. It was first described in 1968 and has shown to have diverse clinical phenotypes. In this report, the phenotypes include... -
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- A Rare Case of a de novo Proximal Deletion of 13q in a Neonate with Congenital Megacolon
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Choi JL, Kim BR, Kim JE, Woo KS, Kim KH, Kim JM, Jeong JA, Han JY
- KMID: 2312222
- Lab Med Online.
- 2013 Apr;3(2):119-123.
Chromosome 13q deletion syndrome, which is relatively rare, is characterized by a wide spectrum of phenotypes resulting from a partial deletion of the long arm of the chromosome 13. The... -
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- The Incidence of Genetic Disease among Pediatric in-patients in a University Hospital
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Moon HR
- KMID: 1660231
- J Korean Pediatr Soc.
- 1977 Feb;20(2):100-105.
The frequency of genetic disease among in-patients of Pediatric department, Seoul National University Hospital during two-year period from January 1972 to December 1973 was surveyed. A total of 1,413 admission... -
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- XYY syndrome: a 13-year-old boy with tall stature
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Jo WH, Jung MK, Kim KE, Chae HW, Kim DH, Kwon AR, Kim HS
- KMID: 2150395
- Ann Pediatr Endocrinol Metab.
- 2015 Sep;20(3):170-173.
- doi: 10.6065/apem.2015.20.3.170
When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess... -
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- Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3
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Choi A, Oh JY, Kim M, Jang W, Jang DH
- KMID: 2440817
- Ann Rehabil Med.
- 2017 Oct;41(5):881-886.
- doi: 10.5535/arm.2017.41.5.881
Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with... -
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- Cytogenetic Analysis of Conceptus Material of Korean Women at First Trimester
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Kim KY, Yun DJ, Yang JS, Hahn S
- KMID: 687778
- Yonsei Med J.
- 1979 Dec;20(2):113-126.
- doi: 10.3349/ymj.1979.20.2.113
No abstract available. -
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- A Case of 17q22 with Interstitial Deletion
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Kang SY, Lee BH, Kim GH, Choi JH, Yoo HW
- KMID: 1851092
- J Genet Med.
- 2011 Jun;8(1):58-61.
- doi: 10.5734/JGM.2011.8.1.58
Cases of interstitial deletions of the long arm of chromosome 17 are very rare, with only nine cases ever reported worldwide. We describe a 12-year-old boy with profound developmental delay,... -
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- A Case of Variants of Turner syndrome Showing 46,X,inv(Y)/45,X Karyotype with Y Chromosome microdeletion
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Cho YY, Cho CH, Yu SD, Kim HM, Park JB
- KMID: 2272826
- Korean J Obstet Gynecol.
- 2006 Apr;49(4):892-898.
46,X,inv(Y)/45,X mosaicism is a extremely rare sex chromosomal disorder. We experienced an unusual mosaic Turner syndrome case in a 29-years old Korean woman with a phenotypic female, primary amenorrhea and... -
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- A case of terminal deletion of chromosome 10p
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Cho JH, Park JE, Ko MK, Kim EJ, Park JK, Lee SA, Lee JH, Paik WY
- KMID: 2274055
- Korean J Obstet Gynecol.
- 2011 Jul;54(7):386-389.
- doi: 10.5468/KJOG.2011.54.7.386
Chromosome 10p deletion (partial monosomy 10p) is rare chromosomal disorder. It was first reported in 1970. Since then, as far as we know, about 45 patients have been described. The... -
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- A Case of Chorioretinal Coloboma in Triple X Syndrome
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Lee NE, Park YJ, Yoo JM
- KMID: 2213006
- J Korean Ophthalmol Soc.
- 2009 Dec;50(12):1898-1901.
- doi: 10.3341/jkos.2009.50.12.1898
PURPOSE: To report the case of a child with triple X syndrome presenting with exotropia and chorioretinal coloboma. CASE SUMMARY: A one-year-old female infant presented with 35PD exotropia in the primary... -
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- Cytogenetic Aberrations in Patients with Growth Retardation
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Yoon HR, Yang YS, Kim SH
- KMID: 2300552
- Korean J Clin Pathol.
- 1998 Dec;18(4):678-684.
BACKGROUND: Growth retardation (GR) has literally hundreds of causes that have differences in prognoses, complications, and responses to treatments. Especially, growth retarded patients resulting from chromosomal disorders should be genetically... -
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- A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation
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Kim JH, Kim YM, Lee BH, Kim JH, Seo EJ, Yoo HW
- KMID: 2055568
- J Genet Med.
- 2012 Jun;9(1):35-37.
- doi: 10.5734/JGM.2012.9.1.35
Emanuel syndrome is a rare genomic syndrome which is characterized by multiple congenital anomalies and developmental disability. This syndrome is related to the presence of the supernumerary derivative chromosome originating... -
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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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- A Case of Klinefelter Syndrome Differentially Diagnosed as a Cause of Gigantism
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Kim JY, Choi YJ, Rhee SY
- KMID: 2259004
- Korean J Med.
- 2011 Mar;80(3):343-347.
Klinefelter syndrome is a congenital disease that is associated with the existence of an extra X chromosome, and is one of the most common causes of male primary hypogonadism. In... -
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- A Korean Case of De Novo 18q Deletion Syndrome With a Large Atrial Septal Defect and Cyanosis
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Kim YJ, Park TS, Han MY, Yoon HS, Choi YS
- KMID: 2363195
- Ann Lab Med.
- 2015 Mar;35(2):272-274.
- doi: 10.3343/alm.2015.35.2.272
No abstract available. -
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