Journal ArticleDOI
Prenatal diagnosis of the Dandy-Walker malformation associated with partial trisomy 12p and distal 15q deletion.
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In this article, the authors reported a rare case that a foetus with DWM showed partial trisomy 12p and distal 15q deletion, and it revealed a microduplication of 12p13.33p11.1 and microdeletion of 15q11.2 in 750k single nucleotide polymorphism (SNP) array, while it showed 46,XX,der(8)(8pter→8q24::12p10→12qter),i(12)(p10) in karyotyping.Abstract:
Dandy-Walker malformation (DWM) is characterized by complete or partial agenesis of the cerebellar vermis, cyatic dilatation of the forth ventricle, and enlarged posterior fossa. However, the mechanism is still not completely understood up to now. In this study, we reported a rare case that a foetus with DWM showed partial trisomy 12p and distal 15q deletion. Karyotype analysis and chromosomal microarray analysis (CMA) were not always concordant with each other, and it is suggested that they should be performed for prenatal genetic diagnosis together. DWM is a rare central nervous system malformation, reported in 1/25-30,000 live births, characterized by complete or partial agenesis of the cerebellar vermis, cyatic dilatation of the forth ventricle, and enlarged posterior fossa (Kumar et al. 2001; Klein et al. 2003; Agrawal et al. 2016). The neurological development of children with DWM may range from normal to severely retarded, and cause variable clinical feature. Although several efforts have been made to explore its pathogenesis, however, it is still not completely understood. During the past decade, some genetic loci, microdeletion or duplication have been reported to be associated with DWM, such as 9p trisomy, partial deletions of the long arm of chromosome 13, genes ZIC1 and ZIC4 (von Kaisenberg et al. 2000; McCormack et al. 2003; Grinberg et al. 2004). In the present study, we describe a prenatal diagnosis case that a foetus with DWM on ultrasound scanning accepted genetic testing, and it revealed a microduplication of 12p13.33p11.1 and microdeletion of 15q11.2 in 750K single nucleotide polymorphism (SNP) array, while it showed 46,XX,der(8)(8pter→8q24::12p10→12qter),i(12)(p10) in karyotyping.read more
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Journal ArticleDOI
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Inessa Grinberg,Hope Northrup,Holly H. Ardinger,Chitra Prasad,William B. Dobyns,Kathleen J. Millen +5 more
TL;DR: The first critical region associated with DWM is defined, encompassing two adjacent Zinc finger in cerebellum genes, ZIC1 and ZIC4, and mice with a heterozygous deletion of these two linked genes have a phenotype that closely resembles DWM, providing a mouse model for this malformation.
Journal ArticleDOI
Dandy-Walker malformation: prenatal diagnosis and prognosis
TL;DR: Vermis anatomy in DWMs was statistically correlated to neurological and intellectual outcome, and the relationship between intellectual performances, vermis anatomy, ventricular size, brain anatomy, and associated malformations was analyzed.
Journal ArticleDOI
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
Marianne Doornbos,Birgit Sikkema-Raddatz,Claudia A. L. Ruijvenkamp,Trijnie Dijkhuizen,Emilia K. Bijlsma,A.C.J. Gijsbers,Yvonne Hilhorst-Hofstee,Roel Hordijk,K. T. Verbruggen,Wilhelmina S. Kerstjens-Frederikse,Ton van Essen,Klaas Kok,Anneke T. van Silfhout,Martijn H. Breuning,Conny M. A. van Ravenswaaij-Arts +14 more
TL;DR: The results suggest a pathogenic nature for the BP1-BP2 microdeletion and support the existence of a novel micro deletion syndrome in 15q11.2 Prader-Willi/Angelman region.
Journal ArticleDOI
Pallister‐Killian syndrome: difficulties of prenatal diagnosis
Bérénice Doray,Françoise Girard-Lemaire,Bernard Gasser,Jean-Jacques Baldauf,Bernard de Geeter,Michèle Spizzo,Charles Zeidan,Elisabeth Flori +7 more
TL;DR: In cases where ultrasound indicators are present, the proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal, and the identification of new discriminating ultrasound indicators would be very helpful in this context.
Journal ArticleDOI
Dandy-Walker syndrome: different modalities of treatment and outcome in 42 cases
TL;DR: Forty-two patients with Dandy-Walker syndrome who were treated with different surgical modalities over a period of 8 years, from 1988 to 1996, at the Sanjay Gandhi Post Graduate Institute of Medical Sciences were reviewed.