- A Case of De Novo 18p Deletion Syndrome with SensorineuralHearing Loss: A case report
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of 2q-Syndrome [46, XX, del (2) (q33q35)]
-
Choi DH, Seol EY, Cho MK, Shon C
- KMID: 2099019
- J Korean Soc Neonatol.
- 2000 May;7(1):64-67.
A long arm deletion of chromosome 2 is very rarely reported. Particular deletion uniformly resulted in developmental delays, craniofacial changes, and occasionally resulted in microcephaly, low set ears, and hand... -
- CITED
-
- Close
- SHARE
-
- Close
- A Rare Case of a de novo Proximal Deletion of 13q in a Neonate with Congenital Megacolon
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Partial Monosomy lOq Syndrome
-
Kim YK, Park YW, Lee CG, Kim SW
- KMID: 2041991
- J Korean Pediatr Soc.
- 1999 Jun;42(6):863-867.
It has been estimated that chromosomal aberrations account for 2.3% to 3% of normal pregnancies and of them 85% are aborted. Therefore, the survival rate of neonates with chromosomal aberrations... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of 22q13 Deletion Syndrome
-
Na SR, Im BC, You JH, Cho HM, You EJ, Kim SJ, Kim KS, Kim YW, Kim EY
- KMID: 2176848
- J Korean Child Neurol Soc.
- 2010 Nov;18(2):338-344.
The deletion 22q13 syndrome (Phelan-McDermid syndrome) is a rare microdeletion syndrome characterized by prominent neurobehavioral deficits including neonatal hypotonia, developmental delay, language delay, autism, and minor dysmorphic features. Due to... -
- CITED
-
- Close
- SHARE
-
- Close
- Wolf-Hirschhorn (4p-) Syndrome Presenting with Status Epilepticus
-
Jun JY, Yu HJ, Lim BC, Lee J, Chae JH, Lee M
- KMID: 1431581
- J Korean Epilepsy Soc.
- 2013 Jun;17(1):17-21.
Wolf-Hirschhorn syndrome is a well-recognized malformation syndrome with multiple congenital anomalies, resulting from partial deletion of the short arm of chromosome 4 (4p-). All affected individuals have intrauterine and postnatal... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Mosaic Ring Chromosome 4 with Subtelomeric 4p Deletion
-
Kim JH, Oh PS, Na HY, Kim SH, Cho HC
- KMID: 1781598
- Korean J Lab Med.
- 2009 Feb;29(1):77-81.
- doi: 10.3343/kjlm.2009.29.1.77
Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Partial Monosomy 10q with Partial Trisomy 22q due to Maternal Balanced Translocation
-
Yang SH, Suh ES, Kim WT
- KMID: 2099117
- J Korean Soc Neonatol.
- 2006 Nov;13(2):288-293.
Partial monosomy of chromosome 10q is a rare chromosomal anomaly. Most cases of partial deletion 10q have chromosome breakpoints in the 10q25 or 10q26 region. Recently about 30 cases with... -
- CITED
-
- Close
- SHARE
-
- Close
- Success Rate of Microsurgical Multiple Testicular Sperm Extraction and Sperm Presence in the Ejaculate in Korean Men With Y Chromosome Microdeletions
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- The general anesthesia experience of deletion 8p syndrome patient: A case report
-
Shin WJ, Kim SD, Kim KH
- KMID: 1766776
- Korean J Anesthesiol.
- 2011 Oct;61(4):332-335.
- doi: 10.4097/kjae.2011.61.4.332
A deletion 8p syndrome is a relatively uncommon congenital disease characterized by mental retardation associated with multiple malformation that make anesthetic management a challenge. Anesthetic management of a patient with... -
- CITED
-
- Close
- SHARE
-
- Close
- A case of terminal deletion of chromosome 10p
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
-
Xie CH, Yang JB, Gong FQ, Zhao ZY
- KMID: 724268
- Yonsei Med J.
- 2008 Jun;49(3):500-502.
- doi: 10.3349/ymj.2008.49.3.500
We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as... -
- CITED
-
- Close
- SHARE
-
- Close
- The Prevelance of Microdeletion of Y Chromosome in Klinefelter's Syndrome
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical and Molecular Delineation of a Novel De Novo 4q28.3-31.21 Interstitial Deletion in a Patient with Developmental Delay
-
Rim JH, Kim SW, Han SH, Yoo J
- KMID: 2345909
- Yonsei Med J.
- 2015 Nov;56(6):1742-1744.
- doi: 10.3349/ymj.2015.56.6.1742
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- Cervical Spine Malformations Associated With a 5q34-5q35.2 Micro-interstitial Deletion: A Case Report
-
Lee H, Kim JS, Lim SH, Sul B, Hong BY
- KMID: 2448910
- Ann Rehabil Med.
- 2018 Dec;42(6):884-887.
- doi: 10.5535/arm.2018.42.6.884
We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of a del(8p)/dup(8q) Recombinant Chromosome
-
Kim JY, Im HB, Son SH, Jeong SY, Sung MJ, Seo SS
- KMID: 2144510
- J Korean Soc Neonatol.
- 2009 May;16(1):76-80.
A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis.... -
- CITED
-
- Close
- SHARE
-
- Close
- Detection of Y Chromosome Microdeletion is Valuable in the Treatment of Patients With Nonobstructive Azoospermia and Oligoasthenoteratozoospermia: Sperm Retrieval Rate and Birth Rate
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion
-
Oh DC, Min JY, Lee MH, Kim YM, Park SY, Won HS, Kim IK, Lee YH, Yoo SJ, Ryu HM
- KMID: 2157607
- J Korean Med Sci.
- 2002 Feb;17(1):125-128.
- doi: 10.3346/jkms.2002.17.1.125
Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH)... -
- CITED
-
- Close
- SHARE
-
- Close
- A Korean Case of De Novo 18q Deletion Syndrome With a Large Atrial Septal Defect and Cyanosis
-
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. -
- CITED
-
- Close
- SHARE
-
- Close
- A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization
-
Woo KS, Kim JE, Kim KE, Kim MJ, Yoo JH, Ahn HS, Shaffer LG, Han JY
- KMID: 1096824
- Korean J Lab Med.
- 2010 Feb;30(1):84-88.
- doi: 10.3343/kjlm.2010.30.1.84
Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital... -
- CITED
-
- Close
- SHARE
-
- Close
