Table 2.

Study subjects’ X chromosome cytologic breakpoints

TSP	Karyotype (50)	BAV	COA	Age (years)	Height (cm)
24	46,X,del(Xp11.2)	X	–	59	138
33	46,X,del(Xp11.2)	–	–	28	150
66	46,X,del(Xp10)	–	–	59	146
163	46,X,del(Xp11.1)	–	–	19	148
166	46,X,del(Xp11.23)	–	–	16	150
203	46,X,del(Xp11.2)	–	–	34	148
243	46,X,del(Xp11.2)	–	–	24	149
281	46,X,del(Xp11.1)	X	–	37	155
297	46,X,del(Xp11.3)	–	–	28	156
328	46,X,del(Xp22.1)	–	–	13	147
406	46,X,del(Xp11.1)	X	–	49	143
362	46,X,der(X)t(X;14)(p11.4;q32.3)	X	X	45	140
226	46,X,der(X)t(X;13)(p11.4;q14)	–	–	13	142
324	46 X,der(X)t(X; acro)(p11.23; p12)	–	–	18	150
408	46,X,del (Xp11.23)	–	–	10	124
210	46,X,del(Xq26)	–	–	22	173
34	46,X,del(Xq21.1)	–	–	34	140
71	46,X,del(Xq11.23)	–	–	33	152
444	46,X,del(Xq11.23)	–	–	35	153
167	46,X,i(Xq10)	–	–	23	134
201	46,X,i(Xq10)	X	–	12	124
209	46,X,i(Xq10)	–	–	39	156
214	46,X,i(Xq10)	–	–	15	148
244	46,X,i(Xq10)	–	–	46	141
253	46,X,i(Xq10)	–	–	40	141
257	46,X,i(Xq10)	–	–	7	121
261	46,X,i(Xq10)	–	–	67	136
263	46,X,i(Xq10)	–	–	35	145
286	46,X,i(Xq10)	–	–	13	122
325	46,X,i(Xq10)	–	–	17	145
350	46,X,i(Xq10)	–	–	36	150
369	46,X,i(Xq10)	–	–	18	160
449	46,X,i(Xq10)	–	–	35	142

These data represent the conclusive report of the NICHD Turner Syndrome Genotype and Phenotype Study, and the analysis supersedes precursory observations. One Xp deletion subject (TSP 33) and two Xq deletion subjects (TSP 34, 71) were included in Loscalzo et al³⁸; TSP 24, 33 66, 163, 166 203, 243, 34, 71 were included in Sachdev et al.¹⁰

BAV, bicuspid aortic valves; COA, aortic coarctation; TSP, Turner study participant identifier.