Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male.
Prenatal diagnosis in a fetus with holoprosencephaly showed a 45,X karyotype and a suspected 18p abnormality. At birth, the fetus presented with normal male genitalia. Y chromatin was not cytogenetically detectable by Q-, G-, or G11-banding. Mosaicism for a cell line containing a Y chromosome was not observed in amniocytes, lymphocytes, or skin fibroblasts. Southern blot analysis for 11 different Y-DNA loci demonstrated the presence in the patient's genome of sequences derived from the short arm, centromeric region, and proximal long arm of the Y chromosome (intervals 1-5). The distal long arm of the Y (intervals 6 and 7) was absent. In situ hybridization with the Y-derived probe pDP105 showed silver grains over the short arm of the del(18) chromosome, suggesting a Y/18 translocation with loss of 18p and distal Yq material.
Münke
M
M
Children's Hospital of Philadelphia, Division of Clinical Genetics, PA 19104.
Page
D C
DC
Brown
L G
LG
Armson
B A
BA
Zackai
E H
EH
Mennuti
M T
MT
Emanuel
B S
BS
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D015342:DNA Probes; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics*; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014998:Y Chromosome
D015342:DNA Probes