Trisomy of chromosome 20

Pan, Sylvia F.; Fatora, S. Robert; Haas, Joel E.; Steele, Mark W.

doi:10.1111/j.1399-0004.1976.tb01595.x

Cited by 36 publications

(6 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A few reports were found that describe severely affected individuals, primarily fetuses or those that suffered neonatal death from lethal malformations. While they do share some of the features listed above, their differences lie in the additional anomalies noted that we have not included in our phenotype [Pallister et al, 1976;Pan et al, 1976;Djalali et al, 1985;Hsieh et al, 1992]. There is little consistency in phenotype among these cases, as they are described.…”

Section: Resultsmentioning

confidence: 55%

See 1 more Smart Citation

Expanding the phenotype of mosaic trisomy 20

Willis

Bird

Dell'Aquilla

et al. 2008

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Mosaic trisomy 20 is one of the more common cytogenetic abnormalities found on amniocentesis or chorionic villus sampling. Studies have shown that outcome is normal in 90-93% of prenatally diagnosed cases. There are however, reports in the literature of children with mosaic trisomy 20 described as having an assortment of dysmorphic features and varying levels of developmental delay. Unfortunately, the literature has not defined a specific phenotype for this entity. Here we report on three patients with mosaic trisomy 20, two of whom were identified prenatally. Over a number of years of follow-up it has become apparent that there are some striking similarities among the three. Comparison between our patients and the literature cases indicates a more consistent phenotype than has previously been suggested. Recurring features include; spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. These findings may be overlooked on routine history and physical exam or assumed to be standard pediatric problems. It is not our intention to suggest that there is a distinctive face for this entity but to suggest that a subtle phenotype does exist. We have attempted to identify a set of findings for which any child diagnosed with mosaic trisomy 20 should be assessed or followed even in the presence of an apparently normal physical exam at birth.

show abstract

Section: Resultsmentioning

confidence: 55%

“…Another possibility could be areas of unrecognized stenosis. This has not been described with mosaic trisomy 20; however, Pan et al [1976] described a severely effected neonate with colonic atresia. Further investigation in this area is needed.…”

Section: Discussionmentioning

confidence: 82%

Expanding the phenotype of mosaic trisomy 20

Willis

Bird

Dell'Aquilla

et al. 2008

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…The phenotypic features in these S A X E T A L . (Pan et al 1976, Wdhlstrom et al 1976) show a spectrum of phenotypic features. Table 1 illustrates the shared phenotypic features of these four trisomy 20q individuals.…”

Section: Discussionmentioning

confidence: 99%

Case report: partial trisomy 20q (20q13.13→qter)

1986

View full text Add to dashboard Cite

show abstract

“…It therefore seems possible to delineate a 20p-malformation syndrome whose distinctive features are the anomalies of vertebral development. Since spinal abnormalities have been observed in various cases with complete trisomy 20 (Pan et al 1976), trisomy 20 mosaicism (Pallister et al 1976), and partial 20p trisomy (Krmpotic et al 1971, Subrr & Brychnac 1974, Taylor et al 1976, it seems likely that they may be correlated with abnormalities of chromosome 20. Not enough data are available to compare 20p trisomy and 2Opdeletion phenotypes in order to establish a type/countertype relationship.…”

Section: S I L E N G O E T a Lmentioning

confidence: 99%

Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism

et al. 1988

View full text Add to dashboard Cite

A 46,XX/46,XX,del(20)(p11) mosaicism was identified in a 10‐month‐old female infant with multiple congenital anomalies, development retardation and failure to thrive. The 20p partial deletion was observed in 50% of the cells examined. Both parents had normal phenotype and karyotype. Only four other patients with partial 20p deletion are known and they are not mosaics. Their clinical findings are similar to those of our patient; in particular, they share anomalies of the vertebral column such as segmentation errors and “butterfly‐shaped” vertebrae.

show abstract

Trisomy of chromosome 20

Cited by 36 publications

References 27 publications

Expanding the phenotype of mosaic trisomy 20

Expanding the phenotype of mosaic trisomy 20

Case report: partial trisomy 20q (20q13.13→qter)

Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism

Contact Info

Product

Resources

About