AZFc deletion detected In a newborn with prenatally diagnosed Yq deletion

A case of prenatally diagnosed Yq deletion is described. Fluorescence in si tu hybridisation (FISH) was used to identify the abnormal chromosome and to exclude mosaicism. Based on the cytogenetic result and the ultrasound inve stigation the pregnancy was continued. A newborn with normal male genitalia was delivered. Microdeletion analysis of the Yq showed the absence of the AZFc region. This type of deletion has been described as being associated w ith azoospermia or oligozoospermia with a progressive decrease of sperm num ber over time. Long-term andrological follow-up of the newborn will be nece ssary with eventual cryoconservation of sperm at early adulthood The presen t report proposes that AZF analysis combined with FISH has an important rol e in accurate genetic counselling in sex chromosome anomalies. Copyright (C ) 2001 John Wiley & Sons, Ltd.