The pedigree, karyotype, and genetic map are shown for the patient with the X;Y translocation. (A) The pedigree of the family with unbalanced X;Y chromosome translocations is shown. Quarter shaded circles indicate females with the der(X) who have short stature. II-2 is a stillborn male with the der(X) chromosome. (B) Karyotype of t(X;Y)(p22;Yq11) is shown. The der(X) is indicated by an arrow. (C) The ideogram of the karyotype in the female and corresponding karyotype in the stillborn male. Y chromosome sequences are shown in gray shading. (D) Genetic map documents the 44 genes deleted from this der(X) chromosome. Sequencing of the junction fragment shows that the breakpoint lies within the KAL1 gene in Xp22.3.