TRISOMY 22

- SCHMIDT-FRACCARO OR CAT-EYE SYNDROME

Trisomy 22, although a rare chromosomal defect in liveborn infants, is common in spontaneous abortions (2.9/1000) (1).

Multiple defects have been described both antenatally and in postnatal live births.

ULTRASOUND

* Severe IUGR. * Thickened nuchal fold (2). * Holoprosencephaly / Hydrocephalus * Callosal agenesis. * Gastrointestinal malrotation. * Renal aplasia / hydronephrosis.

* Oligohydramnios. * Cardiac anomalies (ASD,    VSD, Single atrium). * Persistent left SVC. * Cleft lip and / or palate. * Microphthalmia. * Anal atresia.

REFERENCES

1. Hassold T, Chen N, Funkhouser J et.al. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 1980;44:151-178.
2. Voiculescu I, Back E, Duncan A et.al. Trisomy 22 in a newborn with multiple malformations. Hum Genet 1987;76:298-301.
3. Kukoloch M, Kulharya A, Jalal SM et.al. Trisomy 22: no longer an enigma. Am J Med Genet 1989;34:541-544.
4. Philipson J, Benirschke K, Bogart M. Two liveborn infants with trisomy 22. Pediatr Radiol 1990;10:1001-1005.
5. McPherson E, Stetka D. Trisomy 22 in a liveborn infant with multiple congenital anomalies. Am J Med Genet 1990;36:11-14.
6. Woletz PS. Antenatal detection of trisomy 22. JDMS 1992;8:199-202.