De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus

Sudha, T.; Dawson, Angelika J.; Prasad, Asuri N.; Konkin, David; Groot, G.W. de; Prasad, Chitra

doi:10.1097/00019605-200107000-00008

Cited by 18 publications

(13 citation statements)

References 5 publications

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“…The four highly signiWcant MABs 3q26.1, 3q26.2 and 3q26.3 (P < 0.001) and 3q25 (P < 0.01, P > 0.001) (clinical descriptions (Sudha et al 2001;Willner et al 1990)) are likely to represent a single locus; indeed, an association of 3q deletions (3q24.3-q25.33) and DWM has been previously shown. ZIC1 and ZIC4 have been suggested as possible causative genes (Grinberg et al 2004).…”

Section: Discussionmentioning

confidence: 83%

Chromosomal map of human brain malformations

Tyshchenko

Lurie²,

Schinzel

2008

Hum Genet

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The etiology of most central nervous system (CNS) malformations remains unknown. We have utilized the fact that autosomal chromosome aberrations are commonly associated with CNS malformations to identify new causative gene loci. The human cytogenetic database, a computerized catalog of the clinical phenotypes associated with cytogenetically detectable human chromosome aberrations, was used to identify patients with 14 selected brain malformations including 541 with deletions, and 290 carrying duplications. These cases were used to develop an autosomal deletion and duplication map consisting of 67 different deleted malformation associated bands (MABs) in 55 regions and 88 different duplicated MABs in 36 regions; 31 of the deleted and 8 duplicated MABs were highly significantly associated (P < 0.001). All holoprosencephaly MABs found in the database contained a known HPE gene providing some level of validation for the approach. Significantly associated MABs are discussed for each malformation together with the published data about known disease-causing genes and reported malformation-associated loci, as well as the limitations of the proposed approach.

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Section: Discussionmentioning

confidence: 83%

Chromosomal map of human brain malformations

Tyshchenko

Lurie²,

Schinzel

2008

Hum Genet

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“…Vertical black lines indicate the position of FOXL2 gene (causative of BPES), and ZIC1-ZIC4 genes, as indicated. *previously described by Sudha et al [26]; **previously described by Ko et al [23]. …”

Section: Resultsmentioning

confidence: 99%

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Ferraris

Bernardini

Avramovska

et al. 2013

Orphanet J Rare Dis

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BackgroundThe Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM.Methods and resultsUsing a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q.ConclusionsOur data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS.

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“…We observed a 3q24 deletion in a patient (case 5) with developmental delay, imperforated anus, and cleft palate. Deletion of the 3q24-q26 region including the Dandy-Walker malformations (DWM) critical region (3q24) appears to be associated with a somewhat similar constellation of findings including craniofacial dysmorphism (broad and depressed nasal bridge and low set posteriorly rotated ears), mental retardation, congenital heart defects, and central nervous system malformations [26]. A previous study reported the critical region associated with DWM, which encompasses the ZIC1 and ZIC4 genes, by mapping the 3q24 interstitial deletions in several individuals with DWM [27].…”

Section: Discussionmentioning

confidence: 99%

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

Park¹,

Jung²,

Ryu³

et al. 2011

Mol Cytogenet

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BackgroundArray comparative genomic hybridization (CGH) is currently the most powerful method for detecting chromosomal alterations in pre and postnatal clinical cases. In this study, we developed a BAC based array CGH analysis platform for detecting whole genome DNA copy number changes including specific micro deletion and duplication chromosomal disorders. Additionally, we report our experience with the clinical implementation of our array CGH analysis platform. Array CGH was performed on 5080 pre and postnatal clinical samples from patients referred with a variety of clinical phenotypes.ResultsA total of 4073 prenatal cases (4033 amniotic fluid and 40 chorionic villi specimens) and 1007 postnatal cases (407 peripheral blood and 600 cord blood) were studied with complete concordance between array CGH, karyotype and fluorescence in situ hybridization results. Among 75 positive prenatal cases with DNA copy number variations, 60 had an aneuploidy, seven had a deletion, and eight had a duplication. Among 39 positive postnatal cases samples, five had an aneuploidy, 23 had a deletion, and 11 had a duplication.ConclusionsThis study demonstrates the utility of using our newly developed whole-genome array CGH as first-tier test in 5080 pre and postnatal cases. Array CGH has increased the ability to detect segmental deletion and duplication in patients with variable clinical features and is becoming a more powerful tool in pre and postnatal diagnostics.

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De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus

Cited by 18 publications

References 5 publications

Chromosomal map of human brain malformations

Chromosomal map of human brain malformations

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

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