Case 11

In another abstract, a 12-year-old boy of normal intelligence, with an early history of hypotonia, failure to thrive, developmental delay, and hypogonadism, followed by precocious puberty and obesity was reported to carry a familial balanced, t(13;14) Robertsonian translocation (Linck et al., 1996). He had inherited his single ''free'' chromosome 14 from his mother and preliminary results from the analysis of DNA polymorphisms demonstrated maternal UPD14 (heterodisomy). The phenotype in this case included short stature, small hands and feet, mild developmental delay, hypotonia, premature puberty, hypogonadism, scoliosis, and mild dysmorphic features.

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