A new contribution to the study of 22 trisomy

Abstract

The case of a 2 1/2-month-old male child with intrauterine distrophy features and multiple congenital malformations is presented. Cytogenetic studies of the child and his parents, completed with Q- and G-banding techniques led us to conclude that it is a case of 22 trisomy inherited from his mother.

Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature

“…Given that most of SABs with trisomy 22 originate from maternal meiosis I errors, a question posed was: is it possible that late survival is influenced in any way by the parental origin of the extra chromosome? In only three reported liveborn infants has parental origin of trisomy 22 in liveborns been examined by C or Q banding heteromorphisms [Perez-Castillo et al, 1975;Petersen et al, 1987;Feret et al, 19911; the results were not consistent: two of these were attributed to maternal meiosis I and I1 errors and the remaining one to a paternal meiosis I1 error. In addition, one case of a mosaic trisomy 22 patient demonstrated paternal uniparental disomy [Wertelecki et al, 19861.…”

“…The first cases of non-mosaic trisomy 22 were reported in the early 1970s, the first one being by Hsu et al [1971] and then followed by several others [Iselius et al, 1975;Perez-Castillo et al, 1975;Moro Serrano et al, 1978;Voiculescu et al, 19781; however, early attempts t o delineate trisomy 22 as a syndrome led to some inconsistencies. In a review of 20 cases of trisomy 22, Schinzel [1981bl excluded all but 3 cases, suggesting that the remaining cases were the result either of incomplete trisomy 22, or the consequence of a supernumerary derivative chromosome that resulted from a balanced parental chromosome translocation.…”

Trisomy 22 with 'cat eye' anomaly.

“…Her normal facial features and lack of anal atresia, congenital heart defect, cleft palate, hip abnormalities, and other skeletal defects make her probably the least severely affected patient with trisomy 22 reported to date. The presence of coloboma of the iris, the so-called 'cat eye anomaly', is another unique finding, since in 18 reported cases of full trisomy 22 reliably identified by banding techniques (Bass et al, 1973;Buffoni et al, 1974;German et al, 1971;Hsu et al, 1971;Omar et al, 1974;Penchaszadeh and Coco, 1975;Perez-Castillo et al, 1975;Punnett et al, 1973;Uchida et al, 1968;Uchida and Brynes, 1976;Zackai et al, 1973), none possessed this feature (see Table). This observation leads us to suggest that the term 'cat eye syndrome' should be applied either to both partial trisomy 22 (47,+22q-) and full trisomy 22 (47,+22), or better not at all, retaining the descriptive terms 'trisomy 22' and 'trisomy 22q-'.…”

A case of partial trisomy 22 resulting from maternal 11/22 translocation

“…On the other hand, microcephaly, beaked or bulbous nose, long philtrum, and finger abnormalities were less prominent in partial trisomy 22 as compared with full trisomy 22. The present case showed most of these common features, and additionally exhibited short palpebral fissures, blepharoptosis, long and prominent philtrum, Begleiter et al, 1976;Cervenka et al, 1977;Emanuel et aL, 1976;Goodman et al, 1971;Gustavson et aL, 1972;Hirschhorn et aL, 1973;Hsu et al, 1971;Iselius and Faxelius, 1978;Lalehev et al, 1978;Mollica et aL, 1977;Penchaszadeh and Cocco, 1975;P6rez-Castillo et aL, 1975;Punnett et aL, 1973 ;Shokeir, 1978 ;Uchida et aL, 1968Uchida et aL, , 1976Vianello and Bonioli, 1975;Welter et aL, 1978. long slender fingers and unusual dermatoglyphics. The phenotype of the present case was rather consistent with the trisomy 22 syndrome.…”