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AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion |
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| Authors: | András Tóth Erika P Tardy Sándor Gombos Krisztina Hajdu József Bátorfi Csilla Krausz |
| Institution: | 1. Semmelweis University, Faculty of Health Sciences, Department of Obstetrics and Gynaecology, Budapest, Hungary;2. St Rókus Hospital, Department of Obstetrics and Gynaecology, Budapest, Hungary;3. Immunogenetique Humain, Institut Pasteur, Paris, France
Andrology Unit, University of Florence, Florence, Italy |
| Abstract: | A case of prenatally diagnosed Yq deletion is described. Fluorescence in situ hybridisation (FISH) was used to identify the abnormal chromosome and to exclude mosaicism. Based on the cytogenetic result and the ultrasound investigation 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 with azoospermia or oligozoospermia with a progressive decrease of sperm number over time. Long-term andrological follow-up of the newborn will be necessary with eventual cryoconservation of sperm at early adulthood. The present report proposes that AZF analysis combined with FISH has an important role in accurate genetic counselling in sex chromosome anomalies. Copyright © 2001 John Wiley & Sons, Ltd. |
| Keywords: | Y chromosome AZF FISH prenatal diagnosis infertility |