Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype

D Marcus-Soekarman, G Hamers, A L M Mulder, Jeanne Offermans, Jos Offermans, J Engelen, J C M van Lent-Albrechts, S G F Robben, S de Muinck Keizer-Schrama, K P Wolffenbuttel, L H J Looijenga, J W Oosterhuis, C Schrander-Stumpel, J Nijhuis

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

Samenvatting

Nowadays, improved ultrasound techniques enable the detection of more subtle congenital abnormalities at an earlier stage of fetal development. Current cytogenetic techniques can characterize a chromosomal abnormality in greater detail. These advancements in both diagnostic possibilities have helped to answer many questions but have also created new issues and dilemmas in counselling. This is illustrated by this case report of a 35-year-old woman, who presented at the end of the second trimester of her first pregnancy. Sonographic examination indicated an abnormal external genital in a male fetus. A differential diagnosis of hypospadia was made. During follow-up, an amniocentesis was performed, and this showed a 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype as the cause of the sonographic findings. Cytogenetic characterization of the isodicentric Y chromosome and pre- and post-natal findings in the child are reported. Cases with a similar karyotype reported in the literature are reviewed.

Originele taal-2Engels
Pagina's (van-tot)279-82
Aantal pagina's4
TijdschriftPrenatal diagnosis
Volume25
Nummer van het tijdschrift4
DOI's
StatusGepubliceerd - apr. 2005
Extern gepubliceerdJa

Vingerafdruk

Duik in de onderzoeksthema's van 'Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype'. Samen vormen ze een unieke vingerafdruk.

Citeer dit