Fetal trisomy 8 mosaicism associated with truncus arteriosus Type I

Sirenomelia Associated with Truncus Arteriosus

Syrenomelia sequence is a rare (incidence of 1: 60000 births) [1,2] lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios and the presence of aberrant vasculature. Prenatal sonographic detect...

A corneal abnormality associated with trisomy 8 mosaicism syndrome.

Eye abnormalities are a significant feature of trisomy 8 mosaicism syndrome. This paper gives the first account of the specific histopathology of a corneal opacity which is characteristic of this syndrome. The importance of early recognition is stressed because of potential therapeutic visual improvement. The necessity of including mosaic trisomy 8 in the differential diagnosis of such corneal ...

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.

This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.

Trisomy 8 Mosaicism with Atypical Phenotypic Features

Mosaic trisomy 8 is a relatively common chromosomal abnormality, which shows a great variability in clinical expression, however cases with phenotypic abnormalities tend to present with a distinct, recognizable clinical syndrome with a characteristic facial appearance, a long, slender trunk, limitation of movement in multiple joints, and mild-to-moderate mental retardation; the deep plantar fur...

Truncus arteriosus