<i>De novo</i> balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation

Hordnes, Knut; Engebretsen, Lars; Knudtzon, J

doi:10.1111/j.1399-0004.1995.tb04118.x

Cited by 3 publications

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“…Characteristics of the present and previously described patients with dup5q and craniostenosis were compared in Table I. A further patient presenting acrobrachycephaly (very likely due to primary craniostenosis) was described in association with a “de novo” apparently balanced reciprocal translocation t(5;21)(q13;q22) [Hordnes et al, 1995]. However, in this case, the breakpoint in the long arm of chromosome 5 was too distant from the MSX2 locus and this evidence moved against the direct involvement of this gene by cryptic duplication or position effect.…”

Section: Discussionmentioning

confidence: 99%

Syndromic craniosynostosis due to complex chromosome 5 rearrangement andMSX2gene triplication

Bernardini¹,

Castori²,

Capalbo³

et al. 2007

American J of Med Genetics Pt A

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Craniosynostosis is a common birth defect ( approximately 1/3,000 births) resulting from chromosome imbalances, gene mutations or unknown causes. We report a 6-month-old female with multiple sutural synostosis and prenatal onset growth deficiency, developmental delay, facial dysmorphism, congenital heart defect, and inguinal hernia. An integrated approach of standard cytogenetics, mBAND, locus-specific FISH, and 75 kb resolution array-CGH disclosed a complex chromosome 5 rearrangement, resulting in 3 paracentric inversions, 2 between-arm insertions, and partial duplication of 5q35. An extra copy of the MSX2 gene, which maps within the duplicated segment and is mutated in Boston-type craniosynostosis, was confirmed by molecular cytogenetic studies. Our study confirms that early fusion of cranial sutures commonly observed in the dup(5q) syndrome is caused by triplication of the MSX2 gene and strongly supports the crucial role of this gene in the development of craniofacial structures.

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Section: Discussionmentioning

confidence: 99%

Syndromic craniosynostosis due to complex chromosome 5 rearrangement andMSX2gene triplication

Bernardini¹,

Castori²,

Capalbo³

et al. 2007

American J of Med Genetics Pt A

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Genetics of Craniosynostosis: Genes, Syndromes, Mutations and Genotype-Phenotype Correlations

Passos‐Bueno

Sertié²,

Jehee³

et al. 2008

Frontiers of Oral Biology

144

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Craniosynostosis is a very heterogeneous group of disorders, in the etiology of which genetics play an important role. Chromosomal alterations are important causative mechanisms of the syndromic forms of craniosynostosis accounting for at least 10% of the cases. Mutations in 7 genes are unequivocally associated with mendelian forms of syndromic craniosynostosis: FGFR1, FGFR2, FGFR3, TWIST1, EFNB1, MSX2 and RAB23. Mutations in 4 other genes, FBN1, POR, TGFBR1 and TGFBR2, are also associated with craniosynostosis, but not causing the major clinical feature of the phenotype or with an apparently low penetrance. The identification of these genes represented a great advance in the dissection of the genetics of craniosynostosis in the last 15 years, and today they explain the etiology of about 30% of the syndromic cases. The paucity in the identification of genes associated with this defect has partly been due to the rarity of familial cases. In contrast, very little is known about the molecular and cellular factors leading to nonsyndromic forms of craniosynostosis. Revealing the molecular pathology of craniosynostosis is also of great value for diagnosis, prognosis and genetic counseling. This chapter will review (1) the chromosomal regions associated with syndromic forms of the malformation, (2) the genes in which a large number of mutations have been reported by independent studies (FGFR1, FGFR2, FGFR3, TWIST1 and EFNB1) and (3) the molecular mechanisms and genotype-phenotype correlations of such mutations.

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Craniosynostosis and Chromosomal Alterations

Passos‐Bueno

Fanganiello

Jehee³

2011

Monographs in Human Genetics

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De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation

Abstract: An apparently balanced de novo reciprocal translocation t(5;21) (q13;q22) was demonstrated in a girl with acrobrachycephaly, ventriculomegaly, pulmonary stenosis and anal malformation. The possible relationships between her karyotype and malformations are discussed.

Cited by 3 publications

References 11 publications

Syndromic craniosynostosis due to complex chromosome 5 rearrangement andMSX2gene triplication

Syndromic craniosynostosis due to complex chromosome 5 rearrangement andMSX2gene triplication

Genetics of Craniosynostosis: Genes, Syndromes, Mutations and Genotype-Phenotype Correlations

Craniosynostosis and Chromosomal Alterations

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