The question of trisomy 22 syndrome

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. Two new cases and delineation of the phenotype.

“…Cardiac catheterization or necropsy in five cases showed different types in each case: persistent ductus arteriosus, atrial septal defect of the secundum type, ventricular septal defect plus persistent ductus arteriosus, ventricular septal defect plus pulmonary stenosis and coarctation of aorta, respectively. Nielsen et al, 1969;Goodman et al, 1971;Hsu et al, 1971;Gustavson et al, 1972;Bass et al, 1973, andZackai et al, 1973) reveals a remarkable correspondence in phenotype (Table II). Therefore, and even though some of the authors could come to no definite conclusion about the identity of the extra chromosome, we contend that all those cases are examples of trisomy 22.…”

Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.

“…Though the phenotypes of these individuals have varied widely, their similarities have resulted in the description of a trisomy 22 syndrome (Goodman et al, 1971;Hsu et al, 1971;Nielson et al, 1969). Punnett et al (1973) have urged banding studies in all such patients because the extra chromosome in some was not morphologically normal.…”

“…Trisomy-22 syndrome is a rare clinical condition usually diagnosed on finding an extra G chromosome in patients with multiple congenital anomalies who lack the clinical manifestations of Down's syndrome (Goodman et al, 1971;Hsu et al, 1971;Nielson et al, 1969;Gustavson, Hitrec, and Santesson, 1972;Uchida et al, 1968). Conventional preparations cannot provide a distinction between members of the G group, whereas current techniques for Gand Q-banding can give specific identifications of 21 and 22 (Punnett et al, 1973;Bass, Crandall, and Sparkes, 1973).…”