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Mandibulofacial dysostosis in hutterite sibs: A possible recessive trait

Identifieur interne : 00CB53 ( Main/Exploration ); précédent : 00CB52; suivant : 00CB54

Mandibulofacial dysostosis in hutterite sibs: A possible recessive trait

Auteurs : R. B. Lowry [Canada] ; K. Morgan [Canada] ; T. M. Holmes [Canada] ; P. J. Metcalf [Canada] ; G. F. Stauffer [Canada] ; John M. Opitz ; James F. Reynolds

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1985-11.

RBID : ISTEX:F55080A259EFF89367491AFE47FEF59694B097B5

Descripteurs français

Wicri :
- topic : Génétique.

English descriptors

Abstract

We report on two sisters with mandibulofacial dysostosis (MFD). Both parents were examined carefully by clinical, radiographic, audiologic, and cephalometric methods. Neither showed evidence of the MFD gene. Photographs of three grandparents and examination of one disclosed no evidence of MFD. The parents are from the Hutterite Brethren and are consanguineous. Examination of the literature on MFD disclosed a number of other families with affected sibs and apparently normal parents. These families raise the possibility of an autosomal recessive form of MFD or some other explanation such as germinal mosaicism, chromosome rearrangement, or delayed mutation. For our family, the recurrence risk is probably 25%, but since germinal mosaicism cannot be excluded, it could be as high as 50%.

Url:

https://api.istex.fr/document/F55080A259EFF89367491AFE47FEF59694B097B5/fulltext/pdf

DOI: 10.1002/ajmg.1320220308

Affiliations:

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Le document en format XML

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<term>Autosomal</term>
<term>Autosomal recessive inheritance</term>
<term>Balanced translocation</term>
<term>Base population</term>
<term>Cephalometric analysis</term>
<term>Chromosome</term>
<term>Chromosome analyses</term>
<term>Chromosome studies</term>
<term>Common ancestors</term>
<term>Consanguinity</term>
<term>Dental anomaly</term>
<term>Dysostosis</term>
<term>First cousins</term>
<term>Fourth cousins</term>
<term>Genet</term>
<term>Genetic counseling</term>
<term>Genetics</term>
<term>Germinal mosaicism</term>
<term>Gonadal mosaicism</term>
<term>Head circumference</term>
<term>Hexosaminidase assays</term>
<term>Hutterite</term>
<term>Hutterite sibs</term>
<term>Lateral radiograph</term>
<term>Lowry</term>
<term>Mandibulofacial</term>
<term>Mandibulofacial dysostosis</term>
<term>Medical genetics</term>
<term>Nearest relationship</term>
<term>Normal mandible</term>
<term>Normal parents</term>
<term>Palpebral fissures</term>
<term>Partial pedigree</term>
<term>Paternal grandmother</term>
<term>Pedigree</term>
<term>Present family</term>
<term>Primary teeth</term>
<term>Proband</term>
<term>Recessive</term>
<term>Recurrence risk</term>
<term>Second cousins</term>
<term>Secondary dentition</term>
<term>Sib</term>
<term>Sibship exchange</term>
<term>Significant decrease</term>
<term>Skull radiographs</term>
<term>Syndrome</term>
<term>Third cousins</term>
<term>Unaffected parents</term>
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<term>Alberta hospital research centre</term>
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<term>Autosomal recessive inheritance</term>
<term>Balanced translocation</term>
<term>Base population</term>
<term>Cephalometric analysis</term>
<term>Chromosome</term>
<term>Chromosome analyses</term>
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<term>Dental anomaly</term>
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<term>Genetic counseling</term>
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<term>Hexosaminidase assays</term>
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<term>Palpebral fissures</term>
<term>Partial pedigree</term>
<term>Paternal grandmother</term>
<term>Pedigree</term>
<term>Present family</term>
<term>Primary teeth</term>
<term>Proband</term>
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<term>Recurrence risk</term>
<term>Second cousins</term>
<term>Secondary dentition</term>
<term>Sib</term>
<term>Sibship exchange</term>
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<term>Third cousins</term>
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<front><div type="abstract" xml:lang="en">We report on two sisters with mandibulofacial dysostosis (MFD). Both parents were examined carefully by clinical, radiographic, audiologic, and cephalometric methods. Neither showed evidence of the MFD gene. Photographs of three grandparents and examination of one disclosed no evidence of MFD. The parents are from the Hutterite Brethren and are consanguineous. Examination of the literature on MFD disclosed a number of other families with affected sibs and apparently normal parents. These families raise the possibility of an autosomal recessive form of MFD or some other explanation such as germinal mosaicism, chromosome rearrangement, or delayed mutation. For our family, the recurrence risk is probably 25%, but since germinal mosaicism cannot be excluded, it could be as high as 50%.</div>
</front>
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Mandibulofacial dysostosis in hutterite sibs: A possible recessive trait

Mandibulofacial dysostosis in hutterite sibs: A possible recessive trait

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri