Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?

Table 1

Serial biochemistry results.

Date	Calcium; (nmol/L)*	Alkaline phosphatase; (U/L)^#	Phosphate; (mmol/L)^†	T4; (pmol/L)^‡	TSH; (mIU/L)**	PTH; (ng/L)^##
17/7/2009	2.51	431	1.81	N/A	N/A	229.1
9/12/2009	2.34	400	N/A	13.1	6.76	400.6
12/1/2010	2.51	390	1.9	12.1	8.21	334.6
11/5/2010	2.49	422	2.18	11.7	10.8	238.9

Abnormal results in bold for emphasis.
Normal ranges: *Calcium 2.15–2.65 nmol/L, ^#Alkaline phosphatase 45–315 U/L, ^†Phosphate 1.16–2.1 mmol/L, ^‡Thyroxine 10–22 pmol/L, **Thyroid Stimulating Hormone 0.1–5.0 mIU/L, and ^##Parathyroid Hormone 11–35 ng/L.