Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature

Walfisch, Asnat; Mills, Kelsey E.; Chodirker, Bernard N.; Berger, Howard

doi:10.1007/s00404-012-2288-4

Cited by 11 publications

(13 citation statements)

References 9 publications

(13 reference statements)

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“…Ultrasound findings includes ear pits, micrognathia, heart malformations, cleft palate (most commonly an atrialseptal defect) and Dandy-Walker malformation. However, Dandy-Walker malformation in association with ES has rarely been diagnosed prenatally in the literature [14,15].…”

Section: Discussionmentioning

confidence: 99%

Non-invasive prenatal screening for Emanuel syndrome

et al. 2020

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Objective: The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromosome microduplication detection. Methods: NIPS was performed to diagnose the Emanuel syndrome. Amniocentesis or cordocentesis was performed to confirm the positive screening result of Emanuel syndrome cases. Fetal sample was detected by karyotyping, fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP Array). Parental karyotyping and FISH were also carried out. Results: Two cases with chromosomal abnormalities of 11q23.3q25 and 22q11.1q11.21 were found by NIPS. Chromosomal karyotyping showed that the two fetuses each have a small supernumerary marker chromosome (sSMC), SNP Array further demonstrated double duplications approximately 18 Mb in 11q23.3q25 and 3 Mb in 22q11.1q11.21. FISH confirmed that the small supernumerary marker chromosome (sSMC) was ish der(22)t(11;22) (TUPLE1+, ARSA-). Ultrasound scan and MRI showed some structure malformations in two fetuses. The two mothers were found to be a balanced carrier: 46,XX, t(11;22)(q23.3;q11.2). Conclusion: NIPS could effectively identify Emanuel syndrome, which may indicate risks of a parent being a balanced rearrangement carrier. The followed confirmation test for positive sample is necessary and ensures the accuracy of the diagnosis.

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Section: Discussionmentioning

confidence: 99%

Non-invasive prenatal screening for Emanuel syndrome

et al. 2020

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“…This is a rare syndrome with reported cases of around 100. Table 1 shows the various reported cases found on Google, PubMed/MEDLINE search [6–13]. Male and female balanced carriers have 0.7% and 3.7% risk of having children with supernumerary der(22), respectively [4].…”

Section: Discussionmentioning

confidence: 99%

Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review

Choudhary

Babaji

Sharma

et al. 2013

Case Reports in Pediatrics

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“…Sonographic findings during pregnancy include intrauterine growth retardation, decreased foetal movement, oligohydramnios, vaginal bleeding, and cardiac-renal-cerebral defects. 3,4 It is important to note that detailed, long-term, oral, and dental findings have not been previously reported. Table 1.…”

Section: Introductionmentioning

confidence: 98%

Oral and dental findings in emanuel syndrome

Puranik

Katechia

2019

Int J Paed Dentistry

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Emanuel Syndrome (ES; OMIM# 609029) is a rare disorder caused by an unbalanced chromosomal translocation [supernumerary der(22)t(11,22)] and characterized by multiple congenital abnormalities. With limited published cases and low prevalence (1:110 000), detailed ES‐associated oro‐dental findings have not previously been reported. This is a case report of a 14‐year‐old boy with ES who presented with congenital cardiac, renal, auditory, musculoskeletal problems, and global developmental delay. The patient was managed with risperidone, melatonin, omeprazole, guanfacine, and oxcarbazepine. Anxiety‐associated self‐injurious behaviour was seen along with stereotypic hand movements. Consistent with previous reports, microcephaly and micrognathia were noted. Oro‐facial cleft or gross asymmetry, however, was not observed. Significant oro‐dental findings included delayed eruption of primary and permanent teeth, oligodontia (two erupted and five unerupted permanent teeth), and short‐root anomaly of central incisors. The patient demonstrated anxiety‐triggered bruxism with generalized attrition. This case report provides a comprehensive list of systemic ES findings along with oro‐dental manifestations, which have previously not been reported in detail.

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Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature

Abstract: Review of the biochemical screening results, ultrasound findings, and demographic characteristics of this Emanuel syndrome case series, as well as of the relevant literature fail to suggest a characteristic prenatal pattern.

Cited by 11 publications

References 9 publications

Non-invasive prenatal screening for Emanuel syndrome

Non-invasive prenatal screening for Emanuel syndrome

Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review

Oral and dental findings in emanuel syndrome

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