| Autor: |
I. Tellez-Nagel, I. Rapin, Rose F. Kennedy |
| Rok vydání: |
1977 |
| Předmět: |
|
| Zdroj: |
Archives of Neurology. 34:257-258 |
| ISSN: |
0003-9942 |
| DOI: |
10.1001/archneur.1977.00500160071020 |
| Popis: |
To the Editor.— In our recent article on mucolipidosis IV ( Arch Neurol 33:828, 1976), we reported that the mother's skin fibroblasts in tissue culture contained a few dense inclusions resembling the numerous inclusions found in her child's neurons and fibroblasts. We now report that in a second culture neither her fibroblasts nor those of the child's father contained any abnormal inclusions. The fibroblasts of these two obligate heterozygotes could not be distinguished on morphological grounds from those grown simultaneously from a normal control subject. These observations have implications for prenatal diagnosis. Kohn et al 1 (and personal communication) have monitored two pregnancies at risk for mucolipidosis IV. One homozygous fetus was detected on the basis of inclusions in amniotic cells, and one fetus was correctly predicted as clinically normal because of the absence of such inclusions. Our new findings of morphologically normal fibroblasts in the parents of a child with |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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