A Korean Case of <i>De Novo</i> 18q Deletion Syndrome With a Large Atrial Septal Defect and Cyanosis

Kim, Young Jin; Park, Tae Sung; Han, Mi Young; Yoon, Hoi Soo; Choi, Yong-Sung

doi:10.3343/alm.2015.35.2.272

Cited by 5 publications

(7 citation statements)

References 9 publications

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“…Previous reports have mainly concentrated on cases after birth [2][3][4][5]. There only appears to be two cases of prenatally detected 18q deletion reported in the literature [6][7]. Recently the present authors found two cases at prenatal diagnosis.…”

Section: Introductionmentioning

confidence: 63%

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18q deletion is difficult to detect by prenatal diagnosis: a report of two cases and a discussion of the literature

Wu¹,

Zhu²,

Li³

2017

Clin. Exp. Obstet. Gynecol.

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Section: Introductionmentioning

confidence: 63%

“…From previous reports, the present authors retrieved two cases with prenatal diagnosis of 18q deletion. Kim et al described a female newborn with a de novo 18q22.1q23 deletion [6]. Array analysis on the patient's genomic DNA revealed a 15-Mb (63,244,135-78,013,728) deletion in 18q22.1q23.…”

Section: Discussionmentioning

confidence: 99%

18q deletion is difficult to detect by prenatal diagnosis: a report of two cases and a discussion of the literature

Wu¹,

Zhu²,

Li³

2017

Clin. Exp. Obstet. Gynecol.

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“…Kim et al published a case of de novo 18q deletion syndrome with karyotype 46,XX,del(18)(q22.1) featuring a large atrial septal defect (ASD) and cyanosis. Except for the large ASD, the phenotype of their case was relatively mild compared with other cases of 18q deletion syndrome having similar deletion sizes [ 15 ]. Along with their findings, our case provisions a possible relationship between 18q terminal deletion and atrioventricular septal defects, which could be useful for further studies on genotype–phenotype correlations between 18q deletion syndrome and cardiac anomalies.…”

Section: ⧉ Discussionmentioning

confidence: 99%

Case report of a novel phenotype in 18q deletion syndrome

Bohîlțea

Cîrstoiu

Nedelea³

et al. 2021

Rom J Morphol Embryol

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The latest decades are characterized by an enormous progression in the field of human genetics. In consequences, for various phenotypic manifestations, genetic testing could identify a specific underlying cause. An estimated incidence for all types of 18q deletions is one in 55 000 births predominant on females. About 94% of cases with 18q deletion syndrome appearance are de novo , and the remaining 6% are the inherited from a parent carrying a balanced chromosomal translocation. We present the case of a 35-year-old female who was admitted in our Unit for a second ultrasound opinion after being diagnosed at the second trimester scan at gestational age of 21 weeks of pregnancy with multiple brain and heart malformations, having the recommendation for fetal magnetic resonance imaging (MRI). Further investigations included genetic analysis and pathological examination. Major malformations diagnosed and confirmed were agenesis of the corpus callosum , ventriculomegaly with dilated fourth ventricle, partial agenesis of vermis, bilateral anophthalmia with wide nasal base and left cleft lip. Additional, cardiac malformation, with an important ventricular septal defect and overriding aorta were noted. The results of the microarray analysis showed an abnormal fetal karyotype with a loss of 30.5 basis identified in the long arm of chromosome 18. Although most of the cases of 18q deletion are sporadically or de novo , could be cases where the possible existing syndromes can be inherited from a healthy or mild affected parent. Therefore, in order to establish the recurrence risk, parental karyotypes are recommended.

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“…This has been described, i.e., in a child with 18q deletion chromosomal anomaly. 9 True anomalous drainage of the inferior caval vein to the left atrium has rarely been described. 4 In these patients, the mechanism of cyanosis is obvious.…”

Section: Discussionmentioning

confidence: 99%

Cyanosis due to an isolated atrial septal defect: case report and review of the literature

2020

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Isolated atrial defects usually lead to left-to-right shunt and right ventricular volume load. Descriptions of cyanosis with this congenital heart defect are rare. We describe a rare case of inferior caval vein flow directed through an atrial septal defect in the fossa ovalis leading to severe cyanosis, but without any additional intracardiac anatomical abnormalities. The baby with clinical features of Marfan’s syndrome had an eventration of the right-sided diaphragm. Surgical closure of the defect resolved the cyanosis, but the child died 10 weeks later of severe valvar dysfunction, related to Marfan’s syndrome. Mechanisms of cyanosis in patients with atrial septal defects are discussed. Echocardiographic bubble studies both from the lower and upper half of the body may help to clarify the mechanism of an otherwise unexplained cyanosis.

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A Korean Case of De Novo 18q Deletion Syndrome With a Large Atrial Septal Defect and Cyanosis

Cited by 5 publications

References 9 publications

18q deletion is difficult to detect by prenatal diagnosis: a report of two cases and a discussion of the literature

18q deletion is difficult to detect by prenatal diagnosis: a report of two cases and a discussion of the literature

Case report of a novel phenotype in 18q deletion syndrome

Cyanosis due to an isolated atrial septal defect: case report and review of the literature

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