Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia

Elghezal, Hatem; Rekaya, Mariem Ben; Denguezli, Walid; Adenen, Moussa; Gribaa, Moez; Sarkhosh, Ali

doi:10.1002/pd.1707

Cited by 15 publications

(10 citation statements)

References 18 publications

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“…In the ring chromosome 15 in this present study, the fetus had CDH and intrauterine growth retardation. Britto et al [2014] and Hatem et al [2007] each reported a case of prenatal diagnosis of CDH and intrauterine growth retardation in a fetus with ring chromosome 15 similar to our study. Klaassens et al [2007] reported 2 patients with a deletion of 15q26 and the phenotype consists of intrauterine growth retardation, left-sided CDH, cardiac anomalies, and characteristic facial features, similar to those seen in Fryns syndrome.…”

Section: Discussionsupporting

confidence: 78%

Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia

2015

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Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal content into the thoracic cavity through an abnormal opening in the diaphragm present at birth. It is a common birth defect with high mortality and morbidity. Submicroscopic deletions of 15q26.1 and 8p23.1 have been reported in several cases of CDH. We studied a total of 17 cases with CDH in pre- and postnatal samples using FISH probes. Deletion 15q26.1 was seen in 1/17 prenatal samples. There was no deletion for 8p23.1 in all the samples analyzed. CDH has a genetic etiology, and deletion 15q26.1 increases the risk of CDH. Deletion 15q26.1 in a fetus with CDH is a predictor of poor prognosis. This deletion is also seen in a phenotype similar to Fryns syndrome. CDH identified pre- or postnatally should be investigated further to exclude a 15q26.1 deletion and enable appropriate parental counseling.

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Section: Discussionsupporting

confidence: 78%

Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia

2015

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“…Hatem et al [12] described a woman 27 years-old, gravida 1, para 0, with a fetus at 18-week gestation with IUGR, oligohydramnios, CDH with liver herniation, and polycystic kidneys. Karyotype was 46,XX,r(15) and FISH revealed loss of 15q26.1-qter region.…”

Section: Discussionmentioning

confidence: 99%

“…Although ring chromosome 15 is related to variable phenotypes, most recurrent findings are severe growth deficiency, mental retardation, and dysmorphic features [12]. Severe growth deficiency is a common findings in the ring chromosome 15 because of loss of the insulin-like growth factor I receptor gene located in 15q26.3 [1, 9, 10, 12]. …”

Section: Discussionmentioning

confidence: 99%

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Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography

Herbest

Tedesco

Drummond

et al. 2014

Case Reports in Obstetrics and Gynecology

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We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2.

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“…Ring chromosome 15 r(15) is a rare anomaly both in “pure” and in mosaic forms [1]; so far, only ~50 cases were described [2], and only three cases so far have been reported in prenatal diagnosis [2–4] and just one with a twenty-year cytogenetic and molecular followup [5]. Previous studies showed that ring chromosome 15 results in a varied and unspecific phenotype [6, 7].…”

Section: Introductionmentioning

confidence: 99%

Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report

Puchalska-Niedbał

Zajączek

Petriczko

et al. 2014

Case Reports in Pediatrics

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The Aim. Ring chromosome 15 is a very rare genetic abnormality with a wide spectrum of clinical findings. Up to date, about 50 cases have been documented, whereas no reports on ophthalmological treatment of such patients have been published. The aim of this study is not only to describe a new patient, but also, for the first time, to present the results of nonoperative management of divergent strabismus. Material and Methods. We present an amblyopic patient with 46,XX, r(15) karyotype: treated conservatively for exotropia of 60 prism diopters. The management consisted of refractive and prismatic correction, eye occlusion, and orthoptic exercises between the age of 15 months and 8 years. Results. The deviation angle of exotropia was decreased to 10 prism diopters, the visual acuity improved to 1.0 in both eyes (Snellen chart) and the fixation pattern was normal. The prisms enabled permanent symmetrical stimulation of the retina, which lead to a development of normal single binocular vision (Maddox test, filter test, and synoptophore tests). Conclusions. Parental karyotype was normal; the analysis of a three-generation pedigree has shown no genetic abnormalities or pregnancy losses so the child's karyotype anomaly was classified as de novo that is a single occurrence of this type of chromosomal disorder in this family. Strabismus in ring chromosome 15 patients is a difficult condition to manage, although success may be achieved.

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Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia

Abstract: This case support the evidence that the region 15q26.3 is implicated in intrauterine growth retardation and suggests that the 15q critical region implicated in congenital diaphragmatic hernia is localized in 15q26.1-q26.2.

Cited by 15 publications

References 18 publications

Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia

Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia

Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography

Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report

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