Trisomy-20 Syndrome in Man

Pallister, Philip D.; Herrmann, J.; Meisner, Lorraine F.; Inhorn, Stanley L.; Opitz, John M.

doi:10.1016/s0140-6736(76)90276-2

Cited by 30 publications

(23 citation statements)

References 5 publications

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“…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: 74%

Expanding the phenotype of mosaic trisomy 20

Willis

Bird

Dell'Aquilla

et al. 2008

American J of Med Genetics Pt A

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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.

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Section: Resultsmentioning

confidence: 74%

Expanding the phenotype of mosaic trisomy 20

Willis

Bird

Dell'Aquilla

et al. 2008

American J of Med Genetics Pt A

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“…Developmental retardation and vertebral anomaly have been observed in various cases with complete trisomy 20 (Pan et al, 1976) as well as trisomy 20 with mosa- (Pallister et al, 1976) and partial trisomy 20p (Krmpotic et al, 1971;Subrt and Brychngt~, 1974;Taylor et al, 1976). It seems that vertebral anomaly, i.e.…”

Section: Discussionmentioning

confidence: 99%

“…Abnormalities of chromosome 20 which were identified by Q-and/or G-banding techniques have been reported in complete trisomy 20 (WahlstrSm et al, 1976;Pan et al, 1976), trisomy 20 mosaieism (Pallister et al, 1976), partial trisomy 20p resulting from a transloeation (Krmpotic et al, 1971;Franeke, 1972;Subrt and Bryehn~, 1974;Cohen et aL, 1975, Taylor et al, t976), ring 20 (Atkins et al, 1972;Uchida and Lin, 1972;Faed et al, 1972;Herva et al, 1977), and so far only two reports of a partial deletion 20p have been found (Loiodice et aL, 1970;Kalousek and Therien, 1976), Other structural changes of F group chromosome have been found in bone marrow cells in association with various haematologicat disorders, such as polycythemia vera (Reeves et aL, 1972).…”

Section: Ntroduc T!qnmentioning

confidence: 98%

A partial short arm deletion of chromosome 20∶46, XY, del(20)(p11)

et al. 1978

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SummaryWe have. id.entified a partial deletiotl of the 8hart arm of chromosome 20 in a .5-ye.0r~-o!d boy from pareu.t~ having norm~! phenotype and ka~otype, Hi~ major anomalies were mild .mer~tal retardation, eongenita! be.art di~sease., chest deformity, s~pina bifido, kyphosco!io~is, inguinal hernia, and preaurjcula.r fistula, Th# c.lin, ic0! findings were tompared with those of two patLe0t~ r~eport~d pre~viou_s!y o~ a partial deletion 20p.T~ activity of adeno.sine deamin.ase in the patJent'~ red blood r162 was within normal range, sugge~sting that the gene. locus for the enzyme, which has been pr~evioosly as_signr to ~hromosom~ 20, may not pre.sent on pl !--*pter of chromosome 20,

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“…Trisomy 20 may be in the latter category since an association with severe mental retardation has been reported. 4 We report an example with monosomy X and mosaicism for trisomy 20. Counselling problems are discussed and essential procedures for confirmation are outlined.…”

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confidence: 92%