Article

Linear insertion of atrioventricular valves without septal defect: a new anatomical landmark for Down's syndrome?

Service Pr M. Gamerre, Unité de Foeto-Placentologie, Service d'Anatomopathologie et de Neuropathologie, Hôpital de la Timone, Marseille, France.
Fetal Diagnosis and Therapy (impact factor: 1.05). 17(3):188-92. DOI:48037 pp.188-92
Source: PubMed

ABSTRACT Our objective was to explore whether minor anatomical abnormalities of the septal insertion of tricuspid and mitral valves could be a feature of trisomy 21 in fetuses with an otherwise normal heart. Postmortem examinations were performed in 41 fetuses affected by Down's syndrome and in 52 controls. Adjoining the standard postmortem procedure, an apex-to-base section of the crux of the heart was made on a plane corresponding to the sonographic four-chamber view. This allowed gross and histological examination of the hinge points of tricuspid and mitral leaflets, showing the usual apical displacement of the tricuspid valve in all controls. Of 41 fetuses affected by Down's syndrome, 18 had a structural heart defect. Of the 23 Down syndrome fetuses without a patent heart defect, 16 (i.e., 69% of those considered as having 'normal hearts') had nevertheless a linear insertion of atrioventricular valves at autopsy. Prospective clinical studies are required to evaluate if these postmortem findings can be transposed to the clinical setting of 2nd-trimester sonographic screening.

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    Article: Developmental defects in trisomy 21 and mouse models.
    Jean Maurice Delabar, Revital Aflalo-Rattenbac, Nicole Créau
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    ABSTRACT: Aneuploidies have diverse phenotypic consequences, ranging from mental retardation and developmental abnormalities to susceptibility to common phenotypes and various neoplasms. This review focuses on the developmental defects of murine models of a prototype human aneuploidy: trisomy 21 (Down syndrome, DS, T21). Murine models are clearly the best tool for dissecting the phenotypic consequences of imbalances that affect single genes or chromosome segments. Embryos can be studied freely in mice, making murine models particularly useful for the characterization of developmental abnormalities. This review describes the main phenotypic alterations occurring during the development of patients with T21 and the developmental abnormalities observed in mouse models, and investigates phenotypes common to both species.
    TheScientificWorldJOURNAL 02/2006; 6:1945-64. · 1.66 Impact Factor
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.

Keywords

2nd-trimester sonographic screening
 
41 fetuses
 
allowed gross
 
apex-to-base section
 
atrioventricular valves
 
hinge points
 
histological examination
 
linear insertion
 
minor anatomical abnormalities
 
mitral leaflets
 
mitral valves
 
plane corresponding
 
Postmortem examinations
 
postmortem findings
 
septal insertion
 
standard postmortem procedure
 
syndrome fetuses
 
tricuspid valve
 
trisomy 21
 
usual apical displacement