Trisomy 22 mosaicism.

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.…”

Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non‐compaction cardiomyopathy

“…A total of 20 previously reported patients with mosaic trisomy 22 were reviewed and compared with our patient [Mollica et al, 1977; Osztovics and Ivady, 1977; Pagon et al, 1979; Dulitzky et al, 1981; Schinzel, 1981; Zhang et al, 1984; Wertelecki et al, 1986; Lessick et al, 1988; Lund and Tranebjaerg, 1990; Woods et al, 1994; Pridjian et al, 1995; Crowe et al, 1997; de Pater et al, 1997; Berghella et al, 1998; Basaran et al, 2001; Ruiter et al, 2004; Thomas et al, 2004; Florez and Lacassie, 2005]. As shown in Table I, the clinical features in our patient are consistent with previous reports.…”

Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta

“…Trisomy 22 is common in spontaneous abortions. Apart from a few liveborns who all died within the first year of life, the trisomy is compatible with life only in mosaic form; so far, 15 cases have been reported (Osztovics and Ivady, 1977;Mollica et al, 1977;Zhang et al, 1984;Crowe et al, 1997;de Pater et al, 1997;Berghella et al, 1998). The phenotypic effect of mosaic or partial trisomy for chromosome 22 would most likely overshadow any potential phenotypic effect due to UPD22.…”