E ring chromosome with persistent left superior vena cava and hypertrophic subaortic stenosis.

Wald, Samuel H.; Engel, Eric; We, Nance; Davies, J. N. P.; Puyau, Francis A.; Sinclair-Smith, Bruce C.

doi:10.1136/jmg.6.3.328

Cited by 13 publications

(2 citation statements)

References 17 publications

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“…2e4 The association between chromosomal aberration and PLSVC was first reported by Wald et al in 1969. 5 Du et al 4 reported that the incidence of PLSVC in fetuses with chromosomal abnormalities is approximately 0.78%, but the true incidence remains unknown because nearly 20% of fetuses with PLSVC in their study lacked karyotype data. Berg et al 3 and Galindo et al 6 reported that 9% of fetuses with PLSVC also had chromosomal disorders.…”

Section: Discussionmentioning

confidence: 95%

Fetal Persistent Left Superior Vena Cava with Trisomy 21: A Case Report and Literature Review

Chen

Wang

Tang

et al. 2016

Pediatrics & Neonatology

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Fetal ventricular tachycardia is very rare. The optimal in utero treatment is controversial. A 36-year-old woman was referred for further evaluation of fetal ventricular septal defect at 22+2 weeks' gestation. At 33+1 weeks' gestation, ultrasound revealed fetal tachycardia at a rate of 230-250 beats per min (bpm). M-mode fetal echocardiography confirmed ventricular tachycardia with a ventricular rate (VR) 252 bpm compared with an atrial rate of 143 bpm (figure 1A). Maternal intravenous magnesium sulfate infusion at 2 g/h was commenced at hospital day 1. Follow-up ultrasound in the next day showed markedly improved fetal tachycardia at a VR of 170-180 bpm. Magnesium infusion at a rate of 2 g/h was continued for 4 days. The dose of magnesium tapered to 0.5 g/h at hospital day 8 and 60 mg oral maternal propranolol three times daily was started (VR=123 bpm). On repeat scan at the same day, ventricular tachycardia (VR=203 bpm) recurred. Caesarean delivery was decided because of persistent tachycardia despite increase in dose of magnesium. The baby's tachyarrhythmia was not associated with QT prolongation on electrocardiography after birth (figure 1B). After birth, no antiarrhythmic agents but amiodarone were effective. The baby was discharged with sinus rhythm 26 days after admission of NICU (figure 1C). Supporting information can be found in the online version of this abstract EP04.36 Fetal sinus bradycardia as the symptom of previously undiagnosed familial form of Long QT syndrome type 1 caused by mutation of KCNQ1 gene (c.926C>T) Long QT syndrome (LQTS) type 1 is a rare predominantly autosomal dominant inherited genetic disorder resulting from mutations in KCNQ1 gene which encodes the α-subunit of the slow component of delayed rectifier potassium channel. It is characterised by the prolongation of the QT interval on ECG as well as by life-threatening arrhythmias triggered by physical or emotional stress. Sinus bradycardia represents one of the possible manifestation of LQTS in fetal life together with torsades de pointes and 2 • atrioventricular block. A 30-year old previously healthy primipara was referred to fetal echocardiography due to fetal bradycardia 109 bpm (<3rd centile for GA) observed during the 2nd trimester ultrasound scan. Sinus bradycardia was confirmed, both cardiac structure and function were normal. Mother was not aware of any cardiac disease in her and father's family history. However, she underwent a cardiac evaluation including 12-lead ECG and ECG Holter monitoring which revealed a significant prolongation of the QT interval up to 510 ms (upper normal limit 460 ms). Only then, it was retrospectively found out that her sister and mother had experienced repeated syncopes which led to implantable cardioverter defibrillator implantation. Therefore, molecular genetic testing focused on LQTS was performed in pregnant woman, her sister and mother. LQTS type 1 arising from casual mutation of KCNQ1 gene (c.926C>T) was diagnosed in all tested family members. The female neonate was born at the tertiary c...

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Section: Discussionmentioning

confidence: 95%

Fetal Persistent Left Superior Vena Cava with Trisomy 21: A Case Report and Literature Review

Chen

Wang

Tang

et al. 2016

Pediatrics & Neonatology

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“…Congenital subaortic stenosis is a heart malformation not typical for ring chromosome 18 condition. The only example of association between hypertrophic subaortic stenosis and a ring chromosome from E group, presumably r(18), was described by Wald and coauthors [ 22 ]. In that study, karyotyping was carried out on the basis of chromosome morphology and tritiated tymedin incorporation pattern, and unambiguous identification of the chromosome formed a ring was not possible.…”

Section: Case Presentationmentioning

confidence: 99%

Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects

et al. 2016

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BackgroundRing chromosome 18 [r(18)] syndrome represents a relatively rare condition with a complex clinical picture including multiple congenital dysmorphia and varying degrees of mental retardation. The condition is cytogenetically characterized by a complete or mosaic form of ring chromosome 18, with ring formation being usually accompanied by the partial loss of both chromosomal arms. Here we observed a 20-year-old male patient who along with the features typical for r(18) carriers additionally manifested a severe congenital subaortic stenosis. To define the genetic basis of such a compound phenotype, standard cytogenetic and high-resolution molecular-cytogenetic analysis of the patient was performed.Case presentationStandard chromosome analysis of cultured lymphocytes confirmed 46, XY, r(18) karyotype. Array-based comparative genomic hybridization (array-CGH) allowed to define precisely the breakpoints of 18p and 18q terminal deletions, thus identifying the hemizygosity extent, and to reveal an additional duplication adjoining the breakpoint of the 18p deletion. Apart from the terminal imbalances, we found an interstitial microdeletion of 442 kb in size (18q12.1) that encompassed DTNA gene encoding α-dystrobrevin, a member of dystrophin-associated glycoprotein complex. While limited data on the role of DTNA missense mutations in pathogenesis of human cardiac abnormalities exist, a microdeletion corresponding to whole DTNA sequence and not involving other genes has not been earlier described.ConclusionsA detailed molecular-cytogenetic characterization of the patient with multiple congenital abnormalities enabled to unravel a combination of genetic defects, namely, a ring chromosome 18 with terminal imbalances and DTNA whole-gene deletion. We suggest that such combination could contribute to the complex phenotype. The findings obtained allow to extend the knowledge of the role of DTNA haploinsufficiency in congenital heart malformation, though further comprehensive functional studies are required.Electronic supplementary materialThe online version of this article (doi:10.1186/s13039-016-0229-9) contains supplementary material, which is available to authorized users.

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Mammalian chromosomes containcis‐acting elements that control replication timing, mitotic condensation, and stability of entire chromosomes

Thayer

2012

BioEssays

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Recent studies indicate that mammalian chromosomes contain discrete cis-acting loci that control replication timing, mitotic condensation and stability of entire chromosomes. Disruption of the large non-coding RNA gene ASAR6 results in late replication, an under-condensed appearance during mitosis, and structural instability of human chromosome 6. Similarly, disruption of the mouse Xist gene in adult somatic cells results in a late replication and instability phenotype on the X chromosome. ASAR6 shares many characteristics with Xist, including random mono-allelic expression and asynchronous replication timing. Additional ‘chromosome engineering’ studies indicate that certain chromosome rearrangements affecting many different chromosomes display this abnormal replication and instability phenotype. These observations suggest that all mammalian chromosomes contain ‘inactivation/stability centers’ that control proper replication, condensation and stability of individual chromosomes. Therefore, mammalian chromosomes contain four types of cis-acting elements, origins, telomeres centromeres, and ‘inactivation/stability centers’, all functioning to ensure proper replication, condensation, segregation and stability of individual chromosomes.

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E ring chromosome with persistent left superior vena cava and hypertrophic subaortic stenosis.

Cited by 13 publications

References 17 publications

Fetal Persistent Left Superior Vena Cava with Trisomy 21: A Case Report and Literature Review

Fetal Persistent Left Superior Vena Cava with Trisomy 21: A Case Report and Literature Review

Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects

Mammalian chromosomes containcis‐acting elements that control replication timing, mitotic condensation, and stability of entire chromosomes

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