title: A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1.
abstract: A 45,X complement was found in lymphocyte and fibroblast cultures of a male infant with severe growth and mental retardation and mild dysmorphism. Lymphocyte DNA from this patient was found to contain Yp chromosome sequences. In situ hybridization (ISH) with the 50f2 probe led to a clear assignment of euchromatic material on the short arm of chromosome 1. This observation and others from the literature argue in favour of the conclusion that all 45,X males are probably either the result of undetected mosaicism or are carriers of Y translocated material.
authors: INSERM U.276, Institut Pasteur, Paris, France.
authors: N
authors: N
authors: Abbas
authors: G
authors: G
authors: Novelli
authors: N C
authors: NC
authors: Stella
authors: O
authors: O
authors: Triolo
authors: F
authors: F
authors: Corrado
authors: M
authors: M
authors: Fellous
authors: M
authors: M
authors: Chery
authors: S
authors: S
authors: Gilgenkrantz
authors: B
authors: B
authors: Dallapiccola
mesh_terms: D002675:Child, Preschool; D002843:Chromatin; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D015342:DNA Probes; D022041:Euchromatin; D006801:Humans; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014178:Translocation, Genetic; D014998:Y Chromosome
chemical_list: D002843:Chromatin; D015342:DNA Probes; D022041:Euchromatin