Dandy - Walker syndrome andcorpus callosum agenesis in 5p deletion

Vialard, François; Robyr, R.; Hillion, Y.; Gomes, D. Molina; Selva, J.; Ville, Y.

doi:10.1002/pd.1130

Cited by 28 publications

(29 citation statements)

References 9 publications

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“…Ultrasound abnormalities, in particular cerebellar abnormalities, were found in the second trimester in three of our five cases (cases 2, 4 and 5). This finding is similar to the results of three previous reports . In addition, we described two first‐trimester ultrasound abnormalities: an absent nasal bone and a prominent renal pelvis in case 4.…”

Section: Discussionsupporting

confidence: 92%

“…An absent nasal bone was reported previously in the second trimester in a case of 5p deletion syndrome, and renal abnormalities in another case . Although craniofacial abnormalities have been described after birth, some subtle facial features like low‐set ears in Case 1 and a triangular face in Case 3 were not found on our prenatal ultrasound examinations. Han and Kwak reported eight cases of 5p deletion syndrome, and only half of them had an abnormal prenatal ultrasound finding, including increased nuchal translucency.…”

Section: Discussionmentioning

confidence: 99%

“…5p deletion syndrome, also known as Cri‐du‐Chat syndrome, is a rare cytogenetic condition, caused by variable size deletions in the short arm of chromosome 5, and is characterized by a high‐pitched cry, craniofacial abnormalities and severe psychomotor retardation. Although second‐trimester ultrasound abnormalities and abnormal maternal serum markers associated with 5p deletion syndrome have been reported, there are no common abnormalities and it is difficult to prenatally identify 5p deletion syndrome …”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of 5p deletion syndrome: Report of five cases

Mak

Teresa

Chan

et al. 2019

J of Obstet and Gynaecol

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It is difficult to prenatally identify 5p deletion (−) syndrome. Here, we report five cases of 5p‐ syndrome diagnosed by invasive prenatal diagnosis. Of them, three had a small cerebellum in the second trimester. In one case, a prominent renal pelvis and an absent nasal bone were also found in the first trimester. However, there were no abnormal ultrasound findings in the other two cases. Two cases had noninvasive prenatal testing and one showed a ‘5p‐ syndrome positive result’ because of reduced amount of cell‐free DNA in 5p. Two had combined first‐trimester screening performed where one had a high‐risk result for trisomy 18 and a low pregnancy‐associated plasma protein‐A level. Two cases of 5p‐ syndrome resulted from a parental balanced translocation. Prenatal diagnosis will only be made on invasive prenatal diagnosis for abnormal ultrasound findings with small cerebellum, abnormal prenatal screening or a parental reciprocal translocation involving 5p.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of 5p deletion syndrome: Report of five cases

Mak

Teresa

Chan

et al. 2019

J of Obstet and Gynaecol

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“…There are cases of DWS with complications of trisomy 5p (Kleczkowska et al . 1987) and 5p deletion syndrome (Vialard et al . 2005) in chromosome 5.…”

Section: Review Of Published Reportsmentioning

confidence: 99%

“…Reports have been published on DWS and chromosome 1 (Wells et al 1996;Poot et al 2007), and two cases of chromosome 2q (Davis et al 1991;Waters et al 1993). There are cases of DWS with complications of trisomy 5p (Kleczkowska et al 1987) and 5p deletion syndrome (Vialard et al 2005) in chromosome 5. There are reports on partial monosomy 6q26 (Weimer et al 2006) and subtelomeric deletions of chromosome 6p (Descipio et al 2005) in chromosome 6, and partial trisomy 7q (Chen et al 1996(Chen et al , 2006Metzke-Heidemann et al 2004) in chromosome 7.…”

Section: Other Chromosomes and Concurrent Cases Of Malformation Syndrmentioning

confidence: 99%

Dandy–Walker syndrome and chromosomal abnormalities

Imataka

Yamanouchi

Arisaka

2007

Congenital Anomalies

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Dandy-Walker syndrome (DWS) is a brain malformation of unknown etiology, but several reports have been published indicating that there is a causal relationship to various types of chromosomal abnormalities and malformation syndromes. In the present article, we present a bibliographical survey of several previously issued reports on chromosomal abnormalities associated with DWS, including our case of DWS found in trisomy 18. There are various types of chromosomal abnormalities associated with DWS; most of them are reported in chromosome 3, 9, 13 and 18. We also summarize some other chromosomal abnormalities and various congenital malformation syndromes.

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Identification of genomic loci contributing to agenesis of the corpus callosum

O’Driscoll

Black

Clayton‐Smith

et al. 2010

American J of Med Genetics Pt A

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Agenesis of the corpus callosum (ACC) is a common brain malformation of variable clinical expression that is seen in many syndromes of various etiologies. Although ACC is predominantly genetic, few genes have as yet been identified. We have constructed and analyzed a comprehensive map of ACC loci across the human genome using data generated from 374 patients with ACC and structural chromosome rearrangements, most having heterozygous loss or gain of genomic sequence and a few carrying apparently balanced rearrangements hypothesized to disrupt key functional genes. This cohort includes more than 100 previously unpublished patients. The subjects were ascertained from several large research databases as well as the published literature over the last 35 years. We identified 12 genomic loci that are consistently associated with ACC, and at least 30 other recurrent loci that may also contain genes that cause or contribute to ACC. Our data also support the hypothesis that many ACC loci confer susceptibility to other brain malformations as well as ACC, such as cerebellar hypoplasia, microcephaly, and polymicrogyria. The database presented here provides a valuable resource for diagnosis and management of individuals with ACC and individuals with chromosome rearrangements in whom ACC should be suspected, and of course for identifying ACC causal and contributory genes. Well-defined diagnostic criteria, improved scanning techniques, and increased recognition of associated abnormalities will further facilitate gene mapping and allow definition of distinct syndromes within this heterogeneous group of patients.

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Dandy - Walker syndrome andcorpus callosum agenesis in 5p deletion

Cited by 28 publications

References 9 publications

Prenatal diagnosis of 5p deletion syndrome: Report of five cases

Prenatal diagnosis of 5p deletion syndrome: Report of five cases

Dandy–Walker syndrome and chromosomal abnormalities

Identification of genomic loci contributing to agenesis of the corpus callosum

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