- An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis
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Yoon JG, Shin S, Jung JW, Lee ST, Choi JR
- KMID: 2373526
- Ann Lab Med.
- 2016 Mar;36(2):194-196.
- doi: 10.3343/alm.2016.36.2.194
No abstract available. -
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- An unusual combination of trisomy 21 and partial trisomy 5q
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Kim CJ, Chi JG, Lee KH, Lee CK, Yoo MS, Paik YK
- KMID: 1421942
- J Korean Med Sci.
- 1992 Dec;7(4):373-376.
- doi: 10.3346/jkms.1992.7.4.373
The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of... -
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- A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition
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Chung JL, Choi JR, Park MS, Choi SH
- KMID: 1728880
- Yonsei Med J.
- 2001 Oct;42(5):558-562.
- doi: 10.3349/ymj.2001.42.5.558
"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental and growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs. Here we... -
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- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
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Choi JY, Kim SE, Lee SE, Kim SC
- KMID: 2418801
- Yonsei Med J.
- 2018 Mar;59(2):341-344.
- doi: 10.3349/ymj.2018.59.2.341
Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential... -
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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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- Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
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Kim YH, Kim HS, Ryoo NH, Ha JS
- KMID: 1781301
- Ann Lab Med.
- 2013 Jan;33(1):69-74.
- doi: 10.3343/alm.2013.33.1.69
We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from... -
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- A Case of Partial Trisomy 2p23-pter Syndrome with Trisomy 18p Due to a de novo Supernumerary Marker Chromosome
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Lee JH, Cho HS, Lee ES, Jung BC
- KMID: 1781633
- Korean J Lab Med.
- 2010 Jun;30(3):312-317.
- doi: 10.3343/kjlm.2010.30.3.312
Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is... -
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- A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization
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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... -
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- A Case of Partial Trisomy 9pter --> q13 due to Paternal Balanced Translocation t (9;21) (q13;q21)
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Woo KS, Kim KE, Kwon EY, Kim JP, Han JY
- KMID: 854855
- Korean J Lab Med.
- 2008 Apr;28(2):155-159.
- doi: 10.3343/kjlm.2008.28.2.155
Trisomy 9p is one of the most frequent autosomal anomalies compatible with a long survival rate. Clinical characteristics are craniofacial dysmorphisms including hypertelorism, prominent nose, deepset eyes, and down-slanting palpebral... -
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