A marker chromosome in amniotic fluid cell culture.
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Amniotic Fluid↗
Biomedical subjects
A H Barnard
Publications and source records attributed to A H Barnard.
The implications of detecting an extra metacentric microchromosome on amniotic fluid cell culture.
A patient was referred for amniotic fluid cell culture because of advanced maternal age. A decisional dilemma presented itself as a result of the detection of a metacentric bisatellited microchromosome (47,XX + marker) in the amniotic fluid cell culture. The decision whether to terminate the pregnancy had to be considered because the literature revealed a number of cases of an extra marker in patients with single or multiple congenital abnormalities, although other patients with a similar marker were phenotypically completely normal. The finding of an identical marker chromosome in the phenotypically normal mother and two of her off-spring favoured the continuation of the pregnancy. It would appear as if this is the first reported case in which a familial marker chromosome was detected prenatally and the pregnancy permitted to continue to term with the birth of a normal infant.
Adult↗
Sclerosteosis in old age.
Sclerosteosis is a rare, progressive disorder in which bone overgrowth causes facial distortion and cranial nerve dysfunction. The intracranial pressure usually becomes elevated and sudden death often occurs in adulthood. Servival into old age is unusual, but we have recently had the opportunity to investigate 2 elderly patients. Their clinical and radiographic features suggest that the rate of progression diminishes in later life, and that in exceptional circumstances survival into old age is possible.
Aged↗