Prenatal diagnosis of 47,XX,der(15)t(15;16)(q13;p13.2)

A case of prenatally detected partial trisomy 15 and 16 is reported. Amniocentesis was performed at 14 weeks' gestation because a 6-mm nuchal translucency was detected on a dating ultrasound evaluation. Karyotype from amniocytes was suspect of an aberration concerning a marker chromosome. FISH analysis demonstrated that this marker chromosome was a der(15). A maternal chromosomal rearrangement t(15;16)(q13;p13.2) was confirmed. At birth, the proband was severely hydropic and had dysmorphic features, which included hypertelorism, micrognathia, incomplete separation of the maxilla and mandible, hyperflexed hands with overlapping fingers, hyposegmented right lung, and a single umbilical artery. Copyright © 2004 John Wiley & Sons, Ltd.