PMC10387531_01
(A) Pedigree of the proband's family: For each member, from the maternal side, the height (cm) and the respective centile and Z-score (SDS) are reported. Height 0-2 years: Who 0-5 years, 2006; height >2 years: Cacciari 2-20 years, Italy, 2006. Electropherograms of the VPS16 sequence are reported below each correspondent subject. (B) MS-MLPA plot of the SRS patient. Analysis of the BWS/RSS MS-MLPA (ME030) shows normal results for the copy numbers (top panel) and a hypomethylation methylation at the H19 locus (bottom panel).
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F1
At the time of clinical re-evaluation, the patient was 19 years old with a height of 171.1 cm (+1.45 SDS), with a mid-parental height (MPH) of +1.91 SDS (Figure 1), a BMI of 17.3 kg/m2 (-1.80 SDS), and an OFC of 55 cm (+0.27 SDS).