Personalized health risk assessment based on single-cell rna sequencing analysis of a male with 45, x/48, xyyy karyotype

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SUMMARY

    Born at term after an uneventful pregnancy with birth weight 4850 g and Apgar score 10, had psychomotor development in infancy and early childhood within the normal range. On physical examination, abnormal body proportions (greater sitting height than standing) and several dysmorphic features albeit resembling his father were noted (Fig 1B). The patient was overweight with body mass index at 90-97th percentile (21.4 kg/ m2) and had significantly accelerated bone maturity. Primary adrenal insufficiency and other hormonal abnormalities were ruled out by normal synthetic ACTH test results, pre-pubertal gonadotropin response in . . .

     

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