Table 2. Comparisons of the height, weight and BMI distributions in duplication carriers and controls.

The available BMI, weight and height data for duplication carriers were transformed to Z-scores using gender- and age-matched reference populations, and one-sided t-tests were carried out to determine whether the mean Z-scores deviate from zero. Significant differences were identified by reference to cutoffs controlling the false discovery rate (FDR) at 5% (see Methods): BMI – 0.022; weight – 0.032; height – 0.025 (significant results indicated in bold). Data were not available for all subjects.

		Combined2			DD/ID or psychiatric2			Non-medically ascertained3
	Strata	Mean Z-score	p-value	N1	Mean Z-score	p-value	N1	Mean Z-score	p-value	N1
BMI	All	−0.47	2.0e-03	102	−0.56	4.1e-03	76	−0.45	6.0e-03	40
	Male	−0.54	2.1e-02	52	−0.71	1.3e-02	43	−0.31	2.0e-01	14
	Female	−0.4	1.8e-02	50	−0.37	8.3e-02	33	−0.52	4.2e-03	26
Weight	All	−0.56	4.4e-04	104	−0.65	1.3e-03	78	−0.61	3.0e-03	40
	Male	−0.64	5.8e-03	53	−0.79	4.4e-03	44	−0.57	8.8e-02	14
	Female	−0.47	1.7e-02	51	−0.47	6.5e-02	34	−0.63	8.6e-03	26
Height	All	−0.24	4.8e-02	103	−0.33	3.6e-02	77	−0.15	1.8e-01	40
	Male	−0.34	4.5e-02	52	−0.4	4.6e-02	43	−0.29	1.2e-01	14
	Female	−0.14	2.6e-01	51	−0.24	2.1e-01	34	−0.07	3.7e-01	26

¹Relatives of probands were excluded as required, to avoid including more than one member of the same family in a single analysis

²Including 24 cases from the literature (Supplementary Table S3).

³Population-based cases and first-degree relatives of probands.