Insertional translocation into the X chromosome of a 46,XY male.
A baby boy with multiple congenital anomalies and low birth weight has an apparent de novo insertional translocation into the long arm of his only X chromosome. The origin of the translocated material is not evident and both cytogenetic and X-linked marker studies do not indicate any loss of genetic material from the X chromosome. His findings are compared with other males who have X-translocations, none of which appear to be insertional translocations.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D005796:Genes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D012730:Sex Chromosomes; D014178:Translocation, Genetic