Cases reported "Dandy-Walker Syndrome"

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1/14. Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype.

    We report on a female fetus with partial trisomy 9 due to a reciprocal translocation in the mother. Routine ultrasound examination at 23 weeks showed hypoplasia of the cerebellar vermis, dilated foramen Magendii, and dilatation of the cisterna magna. Due to the poor prognosis, the parents opted for termination of pregnancy. A postmortem examination confirmed caudal hypoplasia and dysplasia of the cerebellar vermis, resulting in a massively dilated foramen Magendii through which the enlarged cisterna magna communicated with the fourth ventricle. There was also micropolygyria indicating migration disorder. Cytogenetic studies showed a 47,XX, der(9)t(7;9) (q35;q22.2)mat karyotype. Investigation of the parents revealed a translocation (7;9) (q35;q22.2) in the mother and a normal male karyotype in the father. We systematically searched the chromosome 9 gene map for genes that were trisomic in our fetus and genes that were located on the regions that had the normal two copies of genes. genes that could potentially be involved in the formation of the Dandy-Walker phenotype are transcription factors or genes responsible for the regulation of normal in particular cerebral development but also adhesion molecules. We conclude that one cause for Dandy-Walker malformation could be a gene dosage effect of genes located on 9pter-9q22. In addition, it seems that absence of trisomy 9 in q22-pter does not prevent abnormal cerebellar development.
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ranking = 1
keywords = partial trisomy, trisomy
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2/14. prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion.

    OBJECTIVES: To present the prenatal diagnosis and perinatal findings of partial trisomy 9p and distal 12p deletion. methods AND RESULTS: amniocentesis was performed at 17 gestational weeks due to a balanced reciprocal translocation t(9;12)(p11.2;p13.3) in the mother. The father's karyotype was normal. The family had a 5-year-old daughter with a Dandy-Walker malformation and a trisomy 9p syndrome. cytogenetic analysis of the cultured amniotic fluid cells revealed a 46,XY,der(12)t(9;12)(p11.2;p13.3)mat karyotype with partial monosomy 12p(12pter-->p13.3) and partial trisomy 9p(9pter-->p11.2). Sonographic examination of the fetal brain and skull showed bilateral ventriculomegaly, brachycephaly and a Dandy-Walker malformation with an enlarged cisterna magna and absence of the cerebellar vermis. The pregnancy was terminated subsequently. At autopsy, the proband manifested agenesis of the cerebellar vermis and a typical trisomy 9p phenotype. CONCLUSION: Fetuses with partial trisomy 9p(9pter-->p11.2) may present a Dandy-Walker malformation and ventriculomegaly on prenatal ultrasound in the second trimester. A dosage effect of genes located on 9pter-->p11.2 may be associated with the abnormal development of the central nervous system in patients with partial or complete trisomy 9.
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ranking = 3.3245625600662
keywords = partial trisomy, trisomy
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3/14. Non-mosaic trisomy 20 in cultures of amniotic fluid from a fetus with serious congenital malformation.

    We present a case of non-mosaic trisomy 20 in amniotic fluid associated with major congenital anomalies. A detailed prenatal ultrasonic examination was performed, and revealed dilatation of the cisterna magna and the fourth ventricle with hypoplasia of the vermis of the cerebellum. Fetal echocardiography showed overriding aorta and ventricular septal defects with pulmonary atresia. However, the karyotype of the lymphocyte in the cord blood was normal female 46, XX. The occurrence of the Dandy-Walker malformation in non-mosaic trisomy 20 has not been reported before, and the clinical significance of this major defect for prenatal diagnosis is discussed.
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ranking = 0.68914451998759
keywords = trisomy
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4/14. Phenotypical variation in cousins with the identical partial trisomy 9 (pter-q22.2) and 7 (q35-qter) at 16 and 23 weeks gestation.

    From the study of numerical and structural chromosomal abnormalities, there is convincing evidence and accumulating information of a direct karyotype to phenotype correlation. knowledge of phenotypic consequences of a specific chromosomal imbalance is important for genetic counseling and prenatal diagnosis. However, for unbalanced non-Robertsonian translocations a precise karyotype to phenotype correlation is difficult to predict for several reasons: (I) unbalanced non-Robertsonian translocations are rare, (II) the published case reports are often not age-matched, (III) varying breakpoints result in different lengths of the monosomic and trisomic segments and therefore the phenotype will depend on additional genes present or the loss of coding regions, and (IV) the combination of the same trisomy with different monosomies, or vice versa, can result in diverging phenotypes. Therefore, the study of the karyotype to phenotype correlation in affected relatives of the same age and the identical unbalanced translocation provides a good model to investigate phenotypic consequences of a specific genetic imbalance. We report of two second trimester fetuses with the identical major partial trisomy 9 (9pter-9q22.2) and minor partial trisomy 7 (q35-qter) resulting from a familial translocation (7;9)(q35;q22.2)mat. One fetus presented with a Dandy-Walker malformation, polymicrogyria, and mild dysmorphic features, whereas the other fetus showed unilateral cleft lip and palate without cerebral anomalies. Potential mechanisms for this different phenotypic expression of the same unbalanced translocation resulting in partial trisomy 9 and 7 in the two cousins and possible consequences for genetic counseling and prenatal diagnosis are discussed.
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ranking = 3.0948477200703
keywords = partial trisomy, trisomy
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5/14. A patient with tetrasomy 9p, Dandy-Walker cyst and hirschsprung disease.

    The authors report on a patient with tetrasomy 9p and 9qh due a karyotype 47,XY, dic(9)(q12) in lymphocytes and a normal karyotype in fibroblasts. Clinical and complementary investigation revealed a malformation syndrome with many anomalies like those of trisomy 9p as well as Dandy-Walker cyst and Hirschsprung disease not previously described in tetrasomy 9p.
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ranking = 0.11485741999793
keywords = trisomy
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6/14. Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q.

    PURPOSE: Ocular anomalies have been associated with numerous chromosomal abnormalities. This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the Dup3q phenotype and severe eye and cerebellar malformations. methods: Clinical examination and chromosomal analysis were conducted. RESULTS: The karyotype of the propositus was 46,XX, ins(3)(pter --> p25::q27 --> q21::p25 --> qter). She had an abnormal head shape, low-set malformed ears, coarse facies, short webbed neck, abnormal foot position, polycystic kidney, and spina bifida. There was also bilateral microphthalmia that was more severe on the right side, microcornea, and corneal opacity. She had posterior fossa abnormalities, including cerebellar vermis hypoplasia suggestive of a Dandy-Walker (DW) malformation. CONCLUSIONS: This girl with an intrachromosomal duplication of distal 3q and typical phenotype belongs to the severe end of the spectrum for such cases. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of developmental eye genes in this chromosomal segment.
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ranking = 2.1285645000517
keywords = partial trisomy, trisomy
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7/14. spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).

    An 8-year-old boy presenting with hypotonia, moderate mental retardation, developmental delay, and psychomotor retardation is reported. Magnetic resonance imaging of the brain at age 3 years revealed a Dandy-Walker variant. Cytogenetic analysis of the peripheral blood revealed a derivative chromosome 12 with unknown additional material attached to the distal region of the long arm of chromosome 12. The parental karyotypes were normal. spectral karyotyping (SKY) using the 24-color SKY probes and fluorescence in situ hybridization (FISH) using the specific 7p, 7q, 12p, and 12q telomeric probes confirmed a duplication of distal 7p and a deletion of terminal 12q. The karyotype of the proband was designated as 46,XY.ish der(12)t(7;12) (p21.2;q24. 33)(SKY , 7pTEL , 12qTEL-). The present case provides evidence for the association of partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter) with a cerebellar malformation and the usefulness of SKY and FISH in the identification of a de novo aberrant chromosome resulting from an unbalanced translocation.
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ranking = 2.1285645000517
keywords = partial trisomy, trisomy
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8/14. Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field.

    A premature male infant is described in whom the presence of coarse facies, diaphragmatic hernia, genital anomalies and Dandy-Walker malformation suggested a diagnosis of Fryns' syndrome. Lymphocyte karyotype revealed a partial trisomy 22, and his mother carried an apparently balanced 11/22 translocation. Three infants have been described recently with features of Fryns' syndrome and various aneuploidies. It is suggested that amplified developmental instability of the midline developmental field may account for some of the phenotypic resemblances between these cases.
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ranking = 0.42571290001034
keywords = partial trisomy, trisomy
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9/14. Partial trisomy 22 with Dandy-Walker malformation.

    Partial trisomy 22 usually occurs through a 3:1 meiotic segregation of the parental 11q;22q translocation carrier, which is the most common balanced translocation in man. Common neurologic findings are delayed psychomotor development and muscular hypotonia. There have been a few neuroradiologic and neuropathologic studies, which include ventricular dilatation, arrhinencephaly, and aplasia or hypoplasia of the cerebellar vermis, corpus callosum and pons. We here add one patient with partial trisomy 22 who had, in addition to the usual features, Dandy-Walker malformation, which, to our knowledge, is a previously undescribed feature.
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ranking = 1
keywords = partial trisomy, trisomy
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10/14. Coexistence of dandy-walker syndrome and Down's syndrome.

    A newborn with dandy-walker syndrome was found to have a trisomy 21 karyotype. This is the first reported case of coexisting Dandy-Walker and Down's syndromes. The pathogenetic alternatives for the development of dandy-walker syndrome and the implications of the case are discussed.
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ranking = 0.11485741999793
keywords = trisomy
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