Trisomy 22 with 'cat eye' anomaly.

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.…”

Trisomy 22: No longer an enigma

“…It is noteworthy that milder variations may occur in mosaics [Schinzel, 19811 and rarely even in complete trisomy 22 [Cervenka et al, 19771. The case reported by Cervenka et al [1977] has unilateral coloboma of the eye that raises a question of the unequivocal association of coloboma to the deletion in the extra chromosome 22.…”

“…They further conclude that complete trisomy 22 a t full term may indeed be very rare. More recently, a number of cases have been reported using multiple banding techniques to describe the trisomy 22 [Cervenka et al, 1977;Iselius and Faxelius, 1978;Schinzel, 19813. A case of duplication 22q in a translocation product that has trisomy 22 phenotype has also been described [Lalcher et al, 19781.…”

“…The physical characteristics of this patient and few others reported recently do share a general pattern (Table I). Cervenka et al [1977] and Perez-Castillo et al [ 19751 provide a tabular summary of earlier reported cases. It is noteworthy that milder variations may occur in mosaics [Schinzel, 19811 and rarely even in complete trisomy 22 [Cervenka et al, 19771.…”

Trisomy 22 in a newborn girl with multiple malformations

“…Several cases have also been found among patients with an extra G-like chromosome not associated with Down's syndrome (GUS~AVSON et al 1972;BASS et al 1973; HIRSCHHORN et al 1973; PUNNETT et al 1973;PENCHASZADEH et al 1975; P~REZCAS~LLO et al 1975; VIANELLO and BONIOLI 1975;DUCA et al 1976; UCHIDA et al 1968,1976; MANGOU) BESLEITER et al 1976;CERVENKA et al 1977). However, no case of trisomy 22 has so far been identified in screening investigations of newborn children (JACOBS et al…”