Trisomy 22: A Case Report

Abstract

Trisomy 22 is a common cause of spontaneous abortions, second to trisomy 16. Amniocentesis results have shown an occurrence of 1 in 2833 after the first trimester and the incidence of live births of trisomy 22 is said to be 1 in 30 000-50 000. . More than half of the infants live only 1 week and average life expectancy is 4 days. Dysmorphic features include microcephaly, midface hypoplasia, hypertelorism, epicanthal folds, ear abnormalities, micrognathia, and cleft lip/palate. Additionally, IUGR, urogenital anomalies such as renal agenesis and hypoplasia of the male genitalia, single umbilical artery and digital malformations are frequently observed. Here we present the clinical manifestations, and cytogenetic findings in a liveborn infant girl with a de novo nonmosaic trisomy 22. She was born to a nonconsanguineous family at 40 weeks of gestation with low birth weight. The patient was noted to have cleft lip/palate, microphthalmia, microcornea, low-set and dysmorphic ears with skin tags, short and webbed neck, broad nasal bridge. Genitourinary examination showed anal atresia and recto-vestibular fistula. Transabdominal, transphontanel and thorax ultrasound were normal. Echocardiogram was consistent with a 5 mm VSD, a 6 mm secundum ASD and 1.2 mm PDA. The patient died on the 99. day of life due to respiratory insufficiency. The cytogenetic analysis of the 30 metaphases resulted in 47,XX,+22 karyotype. FISH analysis showed the presence of three signals relating to the D22S75 probe in all of the 100 cells. Trisomy 22 syndrome is a rare chromosomal disorder in live-borns. In this study, when we compared the clinical and cytogenetic findings of the patient, there were no findings in previous cases compared with the cases reported in the literature. The aim of this study is to shed light on the findings of the trisomy 22 syndrome in clinical reviews. In the study, we compared the clinical and cytogenetic findings of the patient with the patients in the literature and found that some of the clinical findings correlated with the others but some of them did not. The aim of this study is contribute to the next clinical reviews.