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

Abstract

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.

Familial Down syndrome: evidence supporting cytoplasmic inheritance

“…One published pedigree even included siblings, one with DS and the other with the double aneuploidy 48,XXY+21 [14]. In families with trisomy 21 recurrence or double aneuploidy where the origin of non‐disjunction was investigated, the majority of cases were maternal [18,21,27–29], although a case of double aneuploidy with additional maternal and paternal chromosomes was also reported [30].…”

Double trisomy

“…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].…”

First trimester detection of double aneuploidy involving autosomes and sex chromosomes using combined biochemical and ultrasound screening

“…Whereas amongst first trimester miscarriages, 37 cases involving chromosome 21 and sex chromosomes have been reported . For chromosome 18 and sex chromosomes, a few live born cases have been reported (summarized in Chen et al .…”

“…Whereas amongst first trimester miscarriages, 37 cases involving chromosome 21 and sex chromosomes have been reported. 3 For chromosome 18 and sex chromosomes, a few live born cases have been reported (summarized in Chen et al 4 ), whereas among first trimester miscarriages, 34 cases have been reported. 3 Cases involving chromosome 13 and sex chromosomes appear to be rare with only seven cases amongst first trimester miscarriages.…”