- Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]
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Gang MH, Lee YW, Lim HH, Chang MY
- KMID: 2468549
- Perinatology.
- 2019 Dec;30(4):254-259.
- doi: 10.14734/PN.2019.30.4.254
Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome... -
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- A Case of Duplication of Chromosome 9q(q13-q21.3) as Polymorphism in Fetus of Patient with Habitual Abortion
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Lee DS, Chung JY, Choi EY, Lee HR, Park EJ, Kim SH, Seo EJ, Cheon DJ, Chae HD, Kim CH, Kang BM
- KMID: 2076354
- Korean J Obstet Gynecol.
- 2001 Sep;44(9):1711-1714.
Habitual abortion or recurrent pregnancy loss has been defined as the occurrence of three or more clinically recognized pregnancy loss before 20 gestational weeks. A recognized cause of habitual abortion... -
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- A Case of Partial Trisomy of 3p (Trisomy of 3p23)
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Kim SJ, Kim IK, Lee KH, Lee SH, Cha KS, Park SJ
- KMID: 1879426
- J Korean Pediatr Soc.
- 1994 Jul;37(7):1006-1010.
Partial Trisomy of 3p (Trisomy of 3p2, dup (3) (p23-->pter)) is a characteristic syndrome of chromosomal duplication of distal part of 3p, but breakpoints seem to vary in location. This... -
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- Recombinant Chromosome 4 with Partial 4p Deletion and 4q Duplication Inherited from Paternal Pericentric Inversion
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Mun SJ, Cho EH, Chey MJ, Shim GH, Shin BM, Lee RK, Ko JK, Yoo SJ
- KMID: 1096825
- Korean J Lab Med.
- 2010 Feb;30(1):89-92.
- doi: 10.3343/kjlm.2010.30.1.89
Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here,... -
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- Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure
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Jun S, Lee Y, Oh A, Kim GH, Seo E, Lee BH, Choi JH, Yoo HW
- KMID: 2470097
- J Genet Med.
- 2019 Dec;16(2):49-54.
- doi: 10.5734/JGM.2019.16.2.49
PURPOSE: Potocki–Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in... -
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- False Homozygosity Results in HLA Genotyping due to Loss of Chromosome 6 in a Patient with Acute Lymphoblastic Leukemia
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Park H, Hyun J, Park SS, Park MH, Song EY
- KMID: 1781698
- Korean J Lab Med.
- 2011 Oct;31(4):302-306.
- doi: 10.3343/kjlm.2011.31.4.302
Loss of heterozygosity (LOH) in chromosome 6p has been reported in a number of tumors and some hematologic malignancies, including ALL. LOH in chromosome 6p, on which the HLA genes... -
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