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The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature
American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.472-478
Goh, Elaine Suk‐Ying
Li, Chumei
Horsburgh, Sheri
Kasai, Yumi
Kolomietz, Elena
Morel, Chantal France
2010
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Goh, Elaine Suk‐Ying
Li, Chumei
Horsburgh, Sheri
Kasai, Yumi
Kolomietz, Elena
Morel, Chantal France
Titel
The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature
Ist Teil von
American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.472-478
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2010
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
Roberts syndrome (RBS) (OMIM #268300) is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, cardiac and renal abnormalities. The syndrome is caused by mutations in the ESCO2 (establishment of cohesion 1 homolog 2) (Entrez 609353) gene, which is located at 8p21.1, and encodes a protein essential in establishing sister chromatid cohesion during S phase. SC phocomelia (SC) (OMIM #269000), has less severe symmetric limb reduction, flexion contractures of various joints, minor facial anomalies, growth retardation and occasionally, mental retardation. These two syndromes can be considered part of a spectrum, with RBS at the most severe range in which severely affected infants may be stillborn or die in the post‐natal period, while individuals with SC phocomelia represent the milder end of the spectrum and typically survive to adulthood. In both presentations, karyotype investigations characteristically reveal premature centromere separation (PCS), otherwise known as heterochromatin repulsion or puffing. There is little literature about the follow‐up of adults with the spectrum of RBS/SC phocomelia or their recommended management. We report on an adult presentation of RBS/SC phocomelia spectrum disorder with a history of major cardiac malformation in childhood, normal limbs on physical examination, mild facial anomalies, mild learning difficulties, and PCS. Molecular studies of ESCO2 have confirmed the diagnosis. A literature review, focussing on adult manifestations of this condition and a discussion of follow‐up guidelines are presented. © 2010 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.33261
Titel-ID: cdi_proquest_miscellaneous_745977554
Format
–
Schlagworte
Abnormalities, Multiple - genetics
,
Adult
,
adult‐middle aged
,
Chromosome Banding
,
congenital heart defect
,
Craniofacial Abnormalities - genetics
,
DNA Mutational Analysis
,
Ectromelia - genetics
,
ESCO2
,
Female
,
Growth Disorders - genetics
,
guidelines
,
Heart Defects, Congenital - genetics
,
Heart Defects, Congenital - surgery
,
Homozygote
,
Humans
,
Karyotyping
,
Male
,
phocomelia
,
Polymerase Chain Reaction
,
Roberts syndrome
,
SC phocomelia
,
Syndrome
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