Double trisomy (48,XXX, + 18)

Tsukahara, Masato; Fukuda, Masayuki; Furukawa, Susumu; Kondoh, Osamu

doi:10.1002/ajmg.1320520227

Cited by 8 publications

(3 citation statements)

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“…The simultaneous occurrence of double trisomy involving chromosomes 18 and X is uncommon. The majority of affected cases have been reported in infancy (Uchida and Bowman, 1961;Uchida et al, 1962;Ricci and Borgatti, 1963;Haas and Lewis, 1966;Emberger et al, 1971;Madahar et al, 1974;Verma and Dosik, 1980;Rosenfeld et al, 1981;Sonoda et al, 1987;Imai et al, 1987;Jaruratanasirikul and Jinorose, 1994;Moore et al, 1994;Tsukahara et al, 1994). To our knowledge, there are very few reports (den Hollander et al, 1994;Hanna et al, 1996) concerning prenatal diagnosis of 48,XXX,+18, but the genetic mechanisms by which double trisomy arose were not well investigated.…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+18

et al. 2000

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Prenatal diagnosis of simultaneous occurrence of double trisomy involving chromosomes 18 and X is extremely rare. We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a fetus with both trisomy 18 and trisomy X. A 26‐year‐old, para 1 woman was referred for genetic counselling at 36 weeks' gestation with the sonographic findings of intrauterine growth retardation (IUGR), polyhydramnios, ventricular septal defect, and an enlarged cisterna magna. Both cordocentesis and amniocentesis revealed a consistent karyotype of 48,XXX,+18. Quantitative fluorescent polymerase chain reaction using polymorphic small tandem repeat markers specific for chromosomes 18 and X rapidly determined that both aneuploidies arose as a result of non‐disjunction in maternal meiosis II. Our case shows that two non‐disjunction events can occur not only in the same parent, but also in the same cell division. Our case also shows that double trisomy, 48,XXX,+18, can demonstrate an enlarged cisterna magna, IUGR and polyhydramnios in prenatal ultrasound. Copyright © 2000 John Wiley & Sons, Ltd.

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Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+18

et al. 2000

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“…Uchida and Bowman [1961] reported the first double trisomy case 48,XXX, + 18. Since then, a total of 16 cases have been reported [Ricci and Borgatti, 1963; Haas and Lewis, 1966; Engel et al, 1967; Taylor, 1968; Emberger et al, 1971; Madahar et al, 1974; Verma and Dosik, 1980; Rosenfeld et al, 1981; Sonoda et al, 1985; Imai et al, 1987; Sonoda et al, 1987; Jaruratanasirikul and Jinorose, 1994; Moore et al, 1994; Tsukahara et al, 1994; Chen et al, 2000]. One of the patients was a mosaic [Engel et al, 1967].…”

Section: To the Editormentioning

confidence: 99%

“…Chen et al [2000], Emberger et al [1971], Engel et al [1967], Haas and Lewis [1966], Imai et al [1987], Jaruratanasirikul and Jinorose [1994], Madahar et al [1974], Moore et al [1994], Ricci and Borgatti [1963], Rosenfeld et al [1981], Sonoda et al [1985], Sonoda et al [1987], Taylor [1968], Tsukahara et al [1994], Uchida and Bowman [1961], Verma and Dosik [1980]…”

Section: To the Editormentioning

confidence: 99%