Article
Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease.
American journal of medical genetics. Part A - 1 Oct 2009
Hes Frederik J, Madan Kamlesh, Rombout-Liem I Shan, Szuhai Karoly, Sørensen Helena, van Amstel Hans Kristian Ploos, Bakker Egbert, Visser Theo J, Smit Johannes W, Hansson Kerstin
Abstract excerpt
We report on multiple genomic aberrations in a patient with mental retardation. In addition, he had hypogonadism, elevated thyroid hormone levels, hearing loss, delayed speech development and mild dysmorphic features. First, we identified a mosaic karyotype, 45,X/46,X,psu dic(Y). The pseudo-dicentric Y chromosome has three short arm segments. Second, we found a germline mutation (Pro453Thr) of the thyroid hormone...
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