Abstract:
:Three patients with 45,X/46,XYnf mosaicism were investigated by Southern hybridization using both X- and Y-specific DNA probes. Our patients seem to be hemizygous for the X chromosomal loci tested. Single-copy and low-copy repeated Y chromosomal sequences assigned to the short arm, centromere, and euchromatin of the long arm have been detected in our patients, suggesting the Y chromosomal origin of the marker chromosome both in male and female cases studied. Densitometry of autoradiographs revealed a double dose of Yp-specific fragments of the DXYS1 locus. None of the patients tested showed either the 3.4- or the 2.1-kb Hae III male-specific repeated DNA sequences. It seems likely that the Ynf is a pseudodicentric chromosome with duplication of Yp and euchromatic Yq sequences, the Yq heterochromatin being lost. Our findings indicate structural heterogeneity of the marker chromosome and in addition provide further information on the relative position of DNA sequences detected by DNA probes 50f2, M1A, and pDP105.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Gänshirt-Ahlert D,Pawlowitzki IH,Gal Adoi
10.1007/BF00284913subject
Has Abstractpub_date
1987-06-01 00:00:00pages
153-6issue
2eissn
0340-6717issn
1432-1203journal_volume
76pub_type
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