- Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations
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Seong ES, Youn HJ, Park MK, Boo HY, Lee BY, Ryu HM, Han YJ
- KMID: 2435965
- 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:... -
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- Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases
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Cho SY, Kim JH
- KMID: 2435967
- 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... -
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- A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis
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Kim DH, Heo SH, Seo GH, Oh A, Kim T, Kim GH, Yoon YH, Yoo HW, Lee BH
- KMID: 2435966
- 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... -
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- A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report
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Choi YY, Woo MH, Kim GB, Song MK, Lee SY, Bae EJ, Choi M, Kim YS
- KMID: 2435968
- 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... -
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- Clinical significance of sonographic soft markers: A review
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Kim MS, Kang S, Cho HY
- KMID: 2435964
- 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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- A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
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Hong S, Lee CG
- KMID: 2435969
- 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... -
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- Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12
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Seo GH, Kim YM, Kim GH, Seo EJ, Choi JH, Lee BH, Yoo HW
- KMID: 2435972
- 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... -
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- Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review
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Park JE, Park JK, Cho IA, Baek JC
- KMID: 2435973
- 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... -
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- 1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction
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Kim YH, Yang JS, Lee YJ, Bae MH, Park KH, Lee DH, Shin KH, Kim SC
- KMID: 2435971
- 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,... -
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- A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease
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Kwon S, Park JS, Jung JH, Hwang SK, Kim YH, Lee YJ
- KMID: 2435970
- 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... -
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