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Distribution of autosomal fragile sites in specimens cultured for prenatal fragile X diagnosis

โœ Scribed by Krawczun, Michael S. ;Jenkins, Edmund C. ;Duncan, Charlotte J. ;Stark-Houck, Sandra L. ;Kunaporn, Suphat ;Schwartz-Richstein, Carol ;Gu, Hong ;Brown, W. Ted

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
622 KB
Volume
38
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

We reviewed the distribution of autosomal fragile sites (FS) and spontaneous chromosome breaks or gaps (CB) at chromosome locations other than those recognized as FS from 100 amniotic fluid samples (AF), 19 chorionic villus samples (CVS), and 5 percutaneous umbilical blood samples (PUBS) referred for fragile X [fra(X)] analysis. We present data on the degree of expression of autosomal fragility in AF, CVS, and PUBS samples, and the relationship between degree of expression and induction system. The most common observed FS were: 3p14, 9p32, and 6q26 in AF; 9q32, 3q27, and 8q22 in CVS; and 3p14, Xq22, and 16q23 in PUBS cases. Distribution of FS and CB, when compared by induction system, was not found to be identical. Our data also indicate that the presence of any particular FS cannot be used as an indicator for the effectiveness of the fra(X) induction system in prenatal samples.

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Prenatal diagnosis of 30 fetuses at risk
Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome
โœ Grasso, M.; Perroni, L.; Colella, S.; Piombo, G.; Argusti, A.; Lituania, M.; Bus ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 29 KB ๐Ÿ‘ 2 views

The results of 30 prenatal diagnoses for fragile X syndrome are reported. Amniotic fluid cells were examined in 1 case, fetal blood in 4, and chorionic villi samples in the others. Of the 5 fetuses analyzed by cytogenetic methods, 1 had showed 4% of fraXq27.3 expression sites and the pregnancy was t