title: Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype.
abstract: 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.
authors.affiliation: Department of Clinical and Cytogenetics, University Hospital, Maastricht, The Netherlands. dominique.soekarman@gen.unimaas.nl
authors.forename: D
authors.initials: D
authors.lastname: Marcus-Soekarman
authors.forename: G
authors.initials: G
authors.lastname: Hamers
authors.forename: A L M
authors.initials: AL
authors.lastname: Mulder
authors.forename: Jeanne
authors.initials: J
authors.lastname: Offermans
authors.forename: Jos
authors.initials: J
authors.lastname: Offermans
authors.forename: J
authors.initials: J
authors.lastname: Engelen
authors.forename: J C M
authors.initials: JC
authors.lastname: van Lent-Albrechts
authors.forename: S G F
authors.initials: SG
authors.lastname: Robben
authors.forename: S
authors.initials: S
authors.lastname: de Muinck Keizer-Schrama
authors.forename: K P
authors.initials: KP
authors.lastname: Wolffenbuttel
authors.forename: L H J
authors.initials: LH
authors.lastname: Looijenga
authors.forename: J W
authors.initials: JW
authors.lastname: Oosterhuis
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: J
authors.initials: J
authors.lastname: Nijhuis
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D002871:Chromosome Banding; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D006801:Humans; D007021:Hypospadias / Q000000981:diagnostic imaging*; D007231:Infant, Newborn; D018404:Isochromosomes; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D012729:Sex Chromosome Aberrations; D016216:Ultrasonography, Prenatal