- Prenatal Diagnosis of a Satellited Chromosome 8p Results from a de novo Cryptic Translocation between Chromosomes 8 and 22
-
Oh AR, Lee BY, Choi EY, Ryu HM, Lee SJ, Jung JY, Park SY
- KMID: 2184491
- J Genet Med.
- 2011 Dec;8(2):135-138.
The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred... -
- CITED
-
- Close
- SHARE
-
- Close
- Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis
-
Ko JM, Yang JA, Jeong SY, Yoon SH
- KMID: 2184490
- J Genet Med.
- 2011 Dec;8(2):130-134.
Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Stickler Syndrome Type I Caused by a Novel Variant of COL2A1 Gene
-
Lee J, Jung CW, Kim GH, Lee BH, Choi JH, Yoo HW
- KMID: 2184489
- J Genet Med.
- 2011 Dec;8(2):125-129.
Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia,... -
- CITED
-
- Close
- SHARE
-
- Close
- Molecular Cytogenetic Characterization of Supernumerary Marker Chromosomes by Chromosomal Microarray
-
Bae MH, Yoo HW, Lee JO, Hong M, Seo EJ
- KMID: 2184488
- J Genet Med.
- 2011 Dec;8(2):119-124.
PURPOSE: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs... -
- CITED
-
- Close
- SHARE
-
- Close
- Genetic Polymorphism in Corticotropin-releasing Hormone Receptor Type-1 in Preeclamptic Korean Women
-
Lim JH, Kim SY, Park SY, Kim DJ, Kim MJ, Ahn HK, Han JY, Kim MY, Park HY, Lee KS, Kim YJ, Ryu HM
- KMID: 2184487
- J Genet Med.
- 2011 Dec;8(2):113-118.
PURPOSE: Placental corticotropin-releasing hormone receptor type 1 (CRHR1) expression is reduced in pregnancies with abnormal placental function such as preeclampsia (PE), and the levels and/or function of CRHR1 are genetically... -
- CITED
-
- Close
- SHARE
-
- Close
- Communication with Family Members about Positive BRCA1/2 Genetic Test Results in Korean Hereditary Breast Cancer Families
-
Kang E, Park SK, Kim KS, Choi DH, Nam SJ, Paik NS, Lee JW, Lee MH, Kim SW, Korean Breast Cancer Society
- KMID: 2184486
- J Genet Med.
- 2011 Dec;8(2):105-112.
PURPOSE: Sharing genetic information with family members is important for cancer awareness and prevention. The purpose of this study is to examine disclosure patterns of positive BRCA genetic test results... -
- CITED
-
- Close
- SHARE
-
- Close
- Prenatal Genetic Test
-
Han YJ, Ryu HM
- KMID: 2184485
- J Genet Med.
- 2011 Dec;8(2):100-104.
Genetic testing has been generalized for the diagnosis of diseases and is an important method of research with advances in the life sciences. In particular, we should give better attention... -
- CITED
-
- Close
- SHARE
-
- Close
- Genetic Counseling in Korean Health Care System
-
Kim HJ
- KMID: 2184484
- J Genet Med.
- 2011 Dec;8(2):89-99.
Over the years Korean health care system has improved in delivery of quality care to the general population for many areas of the health problems. The system is now being... -
- CITED
-
- Close
- SHARE
-
- Close
