title: De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities.
abstract: Cytogenetically detectable translocations of Y chromosome material onto the distal short arm of an X chromosome are rare and result in a variable and poorly defined phenotype of short stature and short limbs occasionally associated with mental retardation. We report on a patient with a de novo 46,X,t(X;Y)(p22;q11) chromosome constitution who has additional features not previously described with this chromosome abnormality, including abnormal retinal pigmentation, imperforate anus, and hydronephrosis. Our patient extends the phenotype associated with X;Y translocations, raising new considerations for the clinical management and genetic counseling of such patients and their families.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006801:Humans; D006869:Hydronephrosis / Q000235:genetics; D007231:Infant, Newborn; D010641:Phenotype; D010857:Pigment Epithelium of Eye / Q000002:abnormalities*; D012729:Sex Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure*; D014998:Y Chromosome / Q000648:ultrastructure*