PubMed · 6507505
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H Beckmann, H Rehder, R Rauskolb. 1984. Prune belly sequence associated with trisomy 13.. https://doi.org/10.1002/ajmg.1320190326
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OBJECTIVE: To examine the relationship between trisomy and neonates with noncoiled umbilical blood vessels. STUDY DESIGN: The incidence of and risk factors for trisomy were evaluated among 48 consecutive, live-born neonates with noncoiled umbilical vessels. RESULTS: Four cases (8.3%) of trisomy were identified. One case of mosaicism was also noted (2.1%). In no case was noncoiling of the umbilical vessels the only identifiable risk factor. The remaining 43 infants (89.6%) were phenotypically normal, although not all underwent karyotype analysis. CONCLUSION: Noncoiled umbilical blood vessels alone do not appear to represent an independent risk factor for trisomy. Rather, identification of noncoiled blood vessels should prompt a thorough search for other abnormalities.
Acrocentric interconnections and NOR (nucleolus organizer region) variants are frequently observed in silver-stained metaphase preparations from lymphocytes of phenotypically normal individuals. The types of interconnections and of NOR variants are outlined. It is speculated that the satellite acrocentrics (both normal and variant) are the consequence of breakage and recoiling of these interconnections. Awareness of these two features of the human genome may facilitate understanding of the NOR/nucleolus interaction(s) in such important processes as nucleolus formation and in development and/or diagnosis of disease states (i.e., malignancy).