DETECTION OF A DE-NOVO DUPLICATION OF 1Q32-QTER BY FLUORESCENCE IN-SITU HYBRIDIZATION IN A BOY WITH MULTIPLE MALFORMATIONS - FURTHER DELINEATION OF THE TRISOMY 1Q SYNDROME

We report a dysmorphic boy with a de novo partial trisomy 1q. The boy has microcephaly, bilateral cleft lip and palate, low set and dysmorph ic ears, brain anomalies, pulmonary stenosis, duodenal obstruction, dy splastic kidneys, and bifid thumbs. The trisomic segment 1q32-qter is duplicated with an inverted insertion at 1p36.3. The aberration was in itially detected at amniocentesis and confirmed and defined by GTG ban ding, chromosome microdissection, and FISH on postnatal blood samples. The parents had normal karyotypes. De novo partial duplications of ch romosome Iq have rarely been reported. Comparison of our patient with other published pure trisomy Iq cases showed similarities which allowe d the further delineation of the trisomy Iq syndrome.