Cytogenetic and molecular studies of a familial paracentric inversion of Y chromosome present in a patient with ambiguous genitalia
JD Liou, YY Ma, LH Gibson, H Su… - American journal of …, 1997 - Wiley Online Library
Here we describe the first reported case of a patient with a familial paracentric inversion in
the long arm of the Y chromosome and ambiguous genitalia. FISH analyses with Y
chromosome YACs demonstrated that the inversion breakpoints of the patients and the
father's Ys appear to be the same and lie within interval 5B of the Y chromosome. PCR and
sequence analysis indicated that our patient carries a normal SRY gene. For an additional
comparison of the patient's inv (Y) with the father, two other Y chromosome sequences were …
the long arm of the Y chromosome and ambiguous genitalia. FISH analyses with Y
chromosome YACs demonstrated that the inversion breakpoints of the patients and the
father's Ys appear to be the same and lie within interval 5B of the Y chromosome. PCR and
sequence analysis indicated that our patient carries a normal SRY gene. For an additional
comparison of the patient's inv (Y) with the father, two other Y chromosome sequences were …
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