PRENATAL-DIAGNOSIS OF A DE-NOVO TRISOMY 6Q22.2-]6QTER AND MONOSOMY 1PTER-]1P36.3 - CASE-REPORT WITH A 2-YEAR FOLLOW-UP AND A BRIEF REVIEW OF OTHER PRENATAL CASES OF PARTIAL TRISOMY 6Q

We report a de novo trisomy 6q22.2-->6qter and monosomy 1pter-->1p36.3 identified in amniocytes by GTG banding and FISH, While ultrasonograp hy demonstrated malformations that did not suggest a specific chromoso mal syndrome, a male infant with features consistent with trisomy 6q w as born, He was followed up until 23 months, when he died after cardia c surgery. The only two other prenatal cases of trisomy 6q were compar ed with our patient. A literature review showed that trisomy 6q has no t been reported in association with the anomalies seen by ultrasound i n this case.