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10 results

Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review

Park JE, Park JK, Cho IA, Baek JC

  • J Genet Med.
  • 2018 Jun;15(1):43-47.
  • doi: 10.5734/JGM.2018.15.1.43
Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we...
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12

Seo GH, Kim YM, Kim GH, Seo EJ, Choi JH, Lee BH, Yoo HW

  • J Genet Med.
  • 2018 Jun;15(1):38-42.
  • doi: 10.5734/JGM.2018.15.1.38
WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which...
1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction

Kim YH, Yang JS, Lee YJ, Bae MH, Park KH, Lee DH, Shin KH, Kim SC

  • J Genet Med.
  • 2018 Jun;15(1):34-37.
  • doi: 10.5734/JGM.2018.15.1.34
A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract,...
A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease

Kwon S, Park JS, Jung JH, Hwang SK, Kim YH, Lee YJ

  • J Genet Med.
  • 2018 Jun;15(1):28-33.
  • doi: 10.5734/JGM.2018.15.1.28
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria...
A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing

Hong S, Lee CG

  • J Genet Med.
  • 2018 Jun;15(1):24-27.
  • doi: 10.5734/JGM.2018.15.1.24
Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused...
A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report

Choi YY, Woo MH, Kim GB, Song MK, Lee SY, Bae EJ, Choi M, Kim YS

  • J Genet Med.
  • 2018 Jun;15(1):20-23.
  • doi: 10.5734/JGM.2018.15.1.20
Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more...
Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases

Cho SY, Kim JH

  • J Genet Med.
  • 2018 Jun;15(1):17-19.
  • doi: 10.5734/JGM.2018.15.1.17
Alkaptonuria (AKU, OMIM: 203500) is a rare autosomal recessive disorder of tyrosine metabolism due to a defect of enzyme activity, homogentisate 1,2-dioxygenase (HGD). The patients with AKU initially presented with...
A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis

Kim DH, Heo SH, Seo GH, Oh A, Kim T, Kim GH, Yoon YH, Yoo HW, Lee BH

  • J Genet Med.
  • 2018 Jun;15(1):13-16.
  • doi: 10.5734/JGM.2018.15.1.13
X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In...
Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

Seong ES, Youn HJ, Park MK, Boo HY, Lee BY, Ryu HM, Han YJ

  • J Genet Med.
  • 2018 Jun;15(1):8-12.
  • doi: 10.5734/JGM.2018.15.1.8
PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS:...
Clinical significance of sonographic soft markers: A review

Kim MS, Kang S, Cho HY

  • J Genet Med.
  • 2018 Jun;15(1):1-7.
  • doi: 10.5734/JGM.2018.15.1.1
Sonographic findings with little or no pathological significance, known as soft markers, are often found in aneuploidy fetuses. After normal screening for the aneuploidy in first trimester, there are no...

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