Trisomy 18: behavioral and structural abnormalities. An ultrasonographic case study

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Limb abnormalities on trisomy 18: evidence for early diagnosis.

OBJECTIVE To assess the frequency and types of limb abnormalities observed among patients with trisomy 18, or Edwards syndrome (ES). METHOD The sample consisted of consecutive patients evaluated by a clinical genetics service in the period from 1975 to 2008. The results of the cytogenetic analysis, as well as the clinical data were retrieved from the medical records, with special attention to...

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Caring for an infant with trisomy 18: A case study and guidelines

Much of the literature describes the prognosis for infants with full trisomy 18 as bleak. The case study offered here provides an overview of an infant with this diagnosis who lived for 88.5 days in a Level III neonatal intensive care unit. Care decisions (medical and basic care) and their outcomes are described along with implications for care for infants with a diagnosis often characterized a...

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Cebocephaly in an infant with trisomy 18.

An infant who died in the perinatal period with the unusual association of trisomy 18 and cebocephaly is described. It is suggested that this association may be more common than is generally recognised because the majority of such infants are stillborn or live only briefly and often do not have chromosome studies performed.

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The trisomy 18 syndrome

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the ...

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ژورنال

عنوان ژورنال: Ultrasound in Obstetrics and Gynecology

سال: 1992

ISSN: 0960-7692

DOI: 10.1046/j.1469-0705.1992.02010048.x