J Genet Med

Journal of Genetic Medicine 2018;15:49-119

Review Articles

Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency

So Hyun Shim, and Dong Hyun Cha

Journal of Genetic Medicine 2018;15:49-54

Integrated diagnostic approach of pediatric neuromuscular disorders

Ha Neul Lee, and Young-Mock Lee

Journal of Genetic Medicine 2018;15:55-63

Original Articles

Genetic overgrowth syndrome: A single center’s experience

Chong Kun Cheon, Yoo-Mi Kim, Ju Young Yoon, and Young A Kim

Journal of Genetic Medicine 2018;15:64-71

Korean physicians’ attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA

Soo Hyun Kim, Kun Woo Kim, You Jung Han, Seung Mi Lee, Mi-Young Lee, Jae-Yoon Shim, Geum Joon Cho, Joon Ho Lee, Soo-young Oh, Han-Sung Kwon, Dong Hyun Cha, and Hyun Mee Ryu

Journal of Genetic Medicine 2018;15:72-78

The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings

Hyeyeon Boo, So Yun Kim, Eui Sun Seoung, Min Hyung Kim, Moon Young Kim, Hyun Mee Ryu, You Jung Han, and Jin Hoon Chung

Journal of Genetic Medicine 2018;15:79-86

Case Reports

Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing

Inkyu Gill, Ja Hye Kim, Jin-Hwa Moon, Yong Joo Kim, and Nam Su Kim

Journal of Genetic Medicine 2018;15:87-91

First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus

Kang-in Kim, Hanbyul Lee, So Yoon Jung, Dong Hwan Lee, and Jeongho Lee

Journal of Genetic Medicine 2018;15:92-96

A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

Jin-Mo Park, Yun Jeong Lee, and Jin-Sung Park

Journal of Genetic Medicine 2018;15:97-101

Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature

Yoo-Mi Kim, Chong Kun Cheon, Han Hyuk Lim, and Han-Wook Yoo

Journal of Genetic Medicine 2018;15:102-106

X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene

Jong-Mok Lee, and Jin-Hong Shin

Journal of Genetic Medicine 2018;15:107-109

Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea

Min Jeong Jang, Cha Gon Lee, and Hyun Jung Kim

Journal of Genetic Medicine 2018;15:110-114

Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism

Ju Kyung Hyun, and Yu Jin Jung

Journal of Genetic Medicine 2018;15:115-119

	The Journal of Genetic Medicine (ISO abbreviation: J Genet Med, JGM) is a peer reviewed and open-access journal of the Korean Society of Medical Genetics and Genomics, providing up-to-date information relevant to the professions of genetics and medicine....

Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature

Bom Yi Lee, Shin Young Lee, Yeon Woo Lee, Shin Young Kim, Jin Woo Kim, Hyun Mee Ryu, Joong Shik Lee, So Yeon Park, and Ju Tae Seo
Received May 23, 2016; Accepted August 16, 2016.

Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report

Ji Hye Kim, Gun Ho Lee, Dong Hyun Cha, Eun-Hae Cho, and Yong Wook Jung
Received November 6, 2015; Accepted December 10, 2015.

Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation

Yeon Jeong Seo, Ko Eun Lee, Jung Min Ko, Gu-Hwan Kim, and Han-Wook Yoo
Received June 1, 2015; Accepted June 10, 2015.