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Article: Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location

TitleAutosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location
Authors
Issue Date2005
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal Of Medical Genetics, 2005, v. 135 A n. 3, p. 324-327 How to Cite?
AbstractAutosomal recessive omodysplasia (ARO, OMIM# 258315), a rare congenital skeletal dysplasia, is characterized by micromelia and craniofacial anomalies. Upper and lower limbs are affected in contrast to the dominant form in which the lower limbs are normal. Radiographic features include shortening and distal tapering of the humerus and femur, proximal radioulnar diastasis, and anterolateral radial head dislocation. We present a recurrence of ARO in a family, detected on prenatal ultrasound at 13 weeks of gestation. Chromosome analysis of the products of conception and the affected sibling showed a paternally-inherited paracentric inversion of 15q13 to q21.3. Due to similarities in the clinical phenotype between diastrophic dysplasia and this condition, testing for DTDST mutation was performed with no mutation detected. © 2005 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/170341
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorTan, TYen_US
dc.contributor.authorMcgillivray, Gen_US
dc.contributor.authorKornman, Len_US
dc.contributor.authorFink, AMen_US
dc.contributor.authorSupertiFurga, Aen_US
dc.contributor.authorBonafé, Len_US
dc.contributor.authorFrancis, DIen_US
dc.contributor.authorSavarirayan, Ren_US
dc.date.accessioned2012-10-30T06:07:37Z-
dc.date.available2012-10-30T06:07:37Z-
dc.date.issued2005en_US
dc.identifier.citationAmerican Journal Of Medical Genetics, 2005, v. 135 A n. 3, p. 324-327en_US
dc.identifier.issn1552-4825en_US
dc.identifier.urihttp://hdl.handle.net/10722/170341-
dc.description.abstractAutosomal recessive omodysplasia (ARO, OMIM# 258315), a rare congenital skeletal dysplasia, is characterized by micromelia and craniofacial anomalies. Upper and lower limbs are affected in contrast to the dominant form in which the lower limbs are normal. Radiographic features include shortening and distal tapering of the humerus and femur, proximal radioulnar diastasis, and anterolateral radial head dislocation. We present a recurrence of ARO in a family, detected on prenatal ultrasound at 13 weeks of gestation. Chromosome analysis of the products of conception and the affected sibling showed a paternally-inherited paracentric inversion of 15q13 to q21.3. Due to similarities in the clinical phenotype between diastrophic dysplasia and this condition, testing for DTDST mutation was performed with no mutation detected. © 2005 Wiley-Liss, Inc.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.htmlen_US
dc.relation.ispartofAmerican Journal of Medical Geneticsen_US
dc.subject.meshAnion Transport Proteinsen_US
dc.subject.meshBone Diseases, Developmental - Genetics - Radiography - Ultrasonographyen_US
dc.subject.meshCarrier Proteins - Geneticsen_US
dc.subject.meshChromosome Bandingen_US
dc.subject.meshChromosome Inversionen_US
dc.subject.meshChromosomes, Human, Pair 15 - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenes, Recessive - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshKaryotypingen_US
dc.subject.meshMembrane Transport Proteinsen_US
dc.subject.meshMutationen_US
dc.subject.meshPregnancyen_US
dc.subject.meshUltrasonography, Prenatalen_US
dc.titleAutosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene locationen_US
dc.typeArticleen_US
dc.identifier.emailTan, TY:tanty@hku.hken_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/ajmg.a.30754en_US
dc.identifier.pmid15887278-
dc.identifier.scopuseid_2-s2.0-19944403250en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-19944403250&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume135 Aen_US
dc.identifier.issue3en_US
dc.identifier.spage324en_US
dc.identifier.epage327en_US
dc.identifier.isiWOS:000229415200017-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridMcGillivray, G=8985369800en_US
dc.identifier.scopusauthoridKornman, L=6603927114en_US
dc.identifier.scopusauthoridFink, AM=7202322436en_US
dc.identifier.scopusauthoridSupertiFurga, A=7006588536en_US
dc.identifier.scopusauthoridBonafé, L=6701522243en_US
dc.identifier.scopusauthoridFrancis, DI=7401512928en_US
dc.identifier.scopusauthoridSavarirayan, R=7003566196en_US

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