… 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 …

… a cytogenetic study about a paracentric inversion of Y … (born at 39 gestation weeks) presented
ambiguous genitalia … In conclusion, the rare paracentric inversion of Y chromosome long …

… lacking a cytogenetically identifiable Y chromosome or its frag… The SRY gene belongs to
the SOX gene family and occurs in … of a paracentric inversion of the short arm of the Y chromo…

… Cytogenetic examination is an obligatory procedure in genetic sexing on … Phenotype of
ambiguous genitalia patient with structure aberration of Y chromosome may vary, patient in this …

… arm of the chromosome, this is called a pericentric inversion. If … , a patient with a familial
paracentric inv(Yq) and ambiguous … with ambiguous genitalia. Am J Med Genet 70: 134–137 (…

… inversion encountered in human cytogenetics is pericentric … carriers of the pericentric inversion,
an inversion most often has … diagnosis of cases with ambiguous genitalia. In children with …

… Pericentric inversions are easier to identify cytogenetically … , short stature, ambiguous
genitalia, and mental retardation are … except the Y chromosome have been identified in various …

… Progress in cytogenetic methods has made it possible to … This review excludes all known
familial cases of Yq-. However, the de … of mixed gonadal dysgenesis with ambiguous genitalia. …

… We found mosaic forms of other X and Y chromosomes (XY/… We also detected paracentric
inversion Y in one case. … Combined cytogenetic and Y chromosome microdeletion screening in …

… but anomalies are reported even when it is familial. We describe … coordination between the
cytogenetic and molecular labs in … reported paracentric inversion of chromosome 18, with the …