Rare otologic presentation of cat eye syndrome

Alamer, Latifah; Bassant, Shaksi; Alhazmi, Rami; Alzahrani, Musaed

doi:10.5144/0256-4947.2019.441

Cited by 6 publications

(6 citation statements)

References 6 publications

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“…Cat eye syndrome (CES) is a rare developmental disorder with the incidence of 1/150000 to 1/50000 in liveborn infants 18 . CES is occured with a bisatellite-dicentric sSMC (22) resulting in a trisomy or partial tetrasomy of chromosome 22 19 . The clinical presentations of CES included high forehead, downslanting palpebral ssures, epicanthus, microphthalmia, cataract, and strabismus.…”

Section: Discussionmentioning

confidence: 99%

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Molecular delineation of de novo Small Supernumerary Marker Chromosomes in prenatal diagnosis, a retrospective study

Kong

2021

Preprint

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Objective To define the genotype-phenotype correlation of small supernumerary marker chromosomes (sSMC) and conduct precise genetic counseling.Methods We retrospectively searched and reviewed the de novo sSMC cases detected during prenatal diagnosis in The First Affiliated Hospital of Zhengzhou University. Chromosome karyotypes of 20314 cases of amniotic fluid from pregnant women were performed. For 17 samples with de novo sSMC, 11 of them were subjected to single nucleotide polymorphism (SNP) array or low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis. Results Among the 11 sSMC cases, two sSMC were derived from chromosome 9, four sSMC were derived from chromosome 12, 18, 22 and X , separately. For the remaining 5 cases, they were not identified by SNP array or CNV-seq because they lacked euchromatin or had low proportion mosaicism. Four of them with the karyotype of 47,XN,+mar presented normal molecular cytogenetic results (seq[hg19] 46,XN ) , the left one with the karyotype of 46,XN,+mar was Turner syndrome (seq[hg19] 45,XO). Five sSMC samples were mosaics of all these 17 cases. Conclusion Considering the variable origins of sSMC, further genetics testing of sSMC should be performed by SNP array or CNV-seq. The detailed molecular characterization would allow precise genetic counseling for prenatal diagnosis.

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Section: Discussionmentioning

confidence: 99%

“…The clinical presentations of CES included high forehead, downslanting palpebral ssures, epicanthus, microphthalmia, cataract, and strabismus. Intellectual de cits, congenital heart defects and renal malformations may be involved in some severe cases [20][21][22] .…”

Section: Discussionmentioning

confidence: 99%

Molecular delineation of de novo Small Supernumerary Marker Chromosomes in prenatal diagnosis, a retrospective study

Kong

2021

Preprint

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“…The clinical presentations of CES include high forehead, downslanting palpebral ssures, epicanthus, microphthalmia, cataract, and strabismus. Intellectual de cits, congenital heart defects and renal malformations may be involved in some severe cases [28][29][30].…”

Section: Discussionmentioning

confidence: 99%

“…For Case 12, the sSMC derived from chromosome 9, with a gain of approximately 10 Mb of the 9p12p21 region (seq[hg19] 9p12p21(28600000-38780000)×3 40% ) (Figure 1-A2). Karyotype analysis showed approximately 70% of analyzed metaphases with the sSMC; thus, the karyotype was de ned as 47,XN,+mar[70]/46,XN [30] (Figure 1-A1).…”

Section: Chromosome Origin and Genotype-phenotype Analysismentioning

confidence: 99%

Molecular Delineation of De Novo Small Supernumerary Marker Chromosomes in Prenatal Diagnosis, A Retrospective Study

Kong

2021

Preprint

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Background To define the genotype-phenotype correlation of small supernumerary marker chromosomes (sSMCs) and conduct precise genetic counseling, we retrospectively searched and reviewed de novo sSMC cases detected during prenatal diagnosis at The First Affiliated Hospital of Zhengzhou University. Chromosome karyotypes of 20,314 cases of amniotic fluid from pregnant women were performed. For 16 samples with de novo sSMCs, 10 were subjected to single-nucleotide polymorphism (SNP) array or low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis. Results Among the 10 sSMC cases, two sSMCs derived from chromosome 9, and three sSMCs derived from chromosomes 12, 18 and 22. The remaining 5 cases were not identified by SNP array or CNV-seq because they lacked euchromatin or had a low proportion of mosaicism. Four of them with a karyotype of 47,XN,+mar presented normal molecular cytogenetic results (seq[hg19] 46,XN), and the remaining patient with a karyotype of 46,XN,+mar presented with Turner syndrome (seq[hg19] 45,X). Five sSMC samples were mosaics of all 16 cases. Conclusion Considering the variable origins of sSMCs, further genetic testing of sSMCs should be performed by SNP array or CNV-seq. Detailed molecular characterization would allow precise genetic counseling for prenatal diagnosis.

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“…Thanks to its easy accessibility, in recent years, the vHIT has become the key office procedure to test SC activity in both acute and chronic vestibular disorders, allowing clinicians to detect peculiar lesion patterns depending on the underlying pathomechanisms and etiologies by matching vHIT data with audiometric and VEMPs results [34][35][36][37][38][39][40][41]. Nevertheless, few studies have investigated vHIT data in SCD so far [42][43][44][45][46][47][48]. Most of them have focused on the modification of the VOR gain of the affected SC in SSCD, where a hypothetical spontaneous prolapse of the middle cranial fossa into the canal through the bony dehiscence is assumed, resulting in a natural occlusion of the membranous duct and in an impaired SSC activity.…”

Section: Introductionmentioning

confidence: 99%

Posterior Semicircular Canal Dehiscence with Vestibulo-Ocular Reflex Reduction for the Affected Canal at the Video-Head Impulse Test: Considerations to Pathomechanisms

Castellucci,

Dumas,

Abuzaid

et al. 2024

Audiology Research

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Posterior semicircular canal dehiscence (PSCD) has been demonstrated to result in a third mobile window mechanism (TMWM) in the inner ear similar to superior semicircular canal dehiscence (SSCD). Typical clinical and instrumental features of TMWM, including low-frequency conductive hearing loss (CHL), autophony, pulsatile tinnitus, sound/pressure-induced vertigo and enhanced vestibular-evoked myogenic potentials, have been widely described in cases with PSCD. Nevertheless, video-head impulse test (vHIT) results have been poorly investigated. Here, we present six patients with PSCD presenting with a clinical scenario consistent with a TMWM and an impaired vestibulo-ocular reflex (VOR) for the affected canal on vHIT. In two cases, an additional dehiscence between the facial nerve and the horizontal semicircular canal (HSC) was detected, leading to a concurrent VOR impairment for the HSC. While in SSCD, a VOR gain reduction could be ascribed to a spontaneous “auto-plugging” process due to a dural prolapse into the canal, the same pathomechanism is difficult to conceive in PSCD due to a different anatomical position, making a dural herniation less likely. Alternative putative pathomechanisms are discussed, including an endolymphatic flow dissipation during head impulses as already hypothesized in SSCD. The association of symptoms/signs consistent with TMWM and a reduced VOR gain for the posterior canal might address the diagnosis toward PSCD.

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Rare otologic presentation of cat eye syndrome

Cited by 6 publications

References 6 publications

Molecular delineation of de novo Small Supernumerary Marker Chromosomes in prenatal diagnosis, a retrospective study

Molecular delineation of de novo Small Supernumerary Marker Chromosomes in prenatal diagnosis, a retrospective study

Molecular Delineation of De Novo Small Supernumerary Marker Chromosomes in Prenatal Diagnosis, A Retrospective Study

Posterior Semicircular Canal Dehiscence with Vestibulo-Ocular Reflex Reduction for the Affected Canal at the Video-Head Impulse Test: Considerations to Pathomechanisms

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