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This report describes a family in which eight individuals in three generations had mental retardation in association with a characteristic pattern of clinical problems and physical abnormalities including short stature, eczema, hernias, delayed puberty, dysmorphic facies and digital anomalies. The family history was consistent with a chromosomal rearrangement with transmission through balanced carriers. Routine ASG banding studies showed extra chromosomal material on a chromosome 16 but failed to demonstrate any differences between the affected individuals and the presumed carriers. However, subsequent studies utilizing trypsin banding and microspectrophotometry of individual chromosomes demonstrated that the affected individuals were partially trisomic for the distal band of the long arm of chromosome 5 and that 0.273 units of a chromosome 5 were translocated to chromosome 16. This definitive cytogenetic diagnosis permitted accurate prenatal diagnosis to be carried out on the fetus of a balanced carrier female. The application of these techniques to previously obscure familial dysmorphic syndromes is recommended.
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W D Loughman, and
U Francke, and
B D Hall, and
M S Golbus, and
J Derstine, and
C J Epstein
January 1978,
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C J Curry, and
W D Loughman, and
U Francke, and
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C J Epstein
June 1986,
Nihon Sanka Fujinka Gakkai zasshi,
C J Curry, and
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C J Curry, and
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C J Curry, and
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J Derstine, and
C J Epstein
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C J Curry, and
W D Loughman, and
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M S Golbus, and
J Derstine, and
C J Epstein
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C J Curry, and
W D Loughman, and
U Francke, and
B D Hall, and
M S Golbus, and
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C J Epstein
January 2004,
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C J Curry, and
W D Loughman, and
U Francke, and
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M S Golbus, and
J Derstine, and
C J Epstein
January 2000,
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C J Curry, and
W D Loughman, and
U Francke, and
B D Hall, and
M S Golbus, and
J Derstine, and
C J Epstein
August 1993,
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C J Curry, and
W D Loughman, and
U Francke, and
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J Derstine, and
C J Epstein
April 1990,
Prenatal diagnosis,
