Fetal t(5p;21q) misdiagnosed as monosomy 21: A plea for in situ hybridization studies
Journal Article
·
· American Journal of Medical Genetics
- Univ. of Washington Medical Center, Seattle, WA (United States)
We report a case of 45,XY,-5,-21,+der (5)t(5;21) (p13 or p14;q11.2 or q21) that was prenatally misdiagnosed as complete monosomy 21 and terminated at 24 weeks of gestation. Subsequent fluorescence in situ hybridization studies with a chromosome 21 painting probe documented the cryptic unbalanced translocation. 17 refs., 2 figs., 1 tab.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 62025
- Journal Information:
- American Journal of Medical Genetics, Vol. 52, Issue 4; Other Information: PBD: 1 Oct 1994
- Country of Publication:
- United States
- Language:
- English
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