TL

ChromosOmics - Database

- CHROMOSOME X -

most common clinical findings acc to Orphanet (variable clinical features)

- Turner-syndrome features = female and male possible
      + partial to total gonadal failure, sexual infantilism, genital anomalies
      + growth retardation
      + mental retardation in case of absence of XIST-gene in
         Xq13.2 (hg19: 73,040,491-73,072,558) on the r(X)

- in male also Klinefelter syndrome possible

Important note: small ring chromosomes derived from X-chromosome are summarized elsewhere.
r(X) of different sizes can be found in 4-5% of the Turner sydrome cases {1157}. In most publications ring size is not considered in abstract (or paper).
Thus, many non accessible paper are not included here, and only elderly references (solid staining) are included without access, suggesting those are larger rings.

Cases without or very mild clinical findings (O)

case no.	gender/ age at diagnosis	studied material	de novo/ inherited	karyotype	test methods	clinical symptoms	Reference
RC/O- 0X- p22q28/ 1-1	male/ ~1.3y	PBL	?dn	46,r(X)(p22q28),Y	GTG	growth retardation	{1215}
RC/O- 0X- p22.3q28/ 1-1	male/ ~6y	PBL	dn	46,r(X)(p22.3q28),Y dynamic mosaicism: in 8/180 cells ring size variants	GTG	growth retardation	{1156}
RC/O- 0X- p22.33q28/ 1-1	male/ ~2y	PBL	mat	46,r(X)(p22.33q28),Y dynamic mosaicism: in 8/180 cells ring size variants. 117 cells showed 85% of cells to have a complement of 46,Y, r(X)(p22.33q28), 5% with 46,Y, dup r(X), and 6.8% with 46,XY FISH: subtelomeres absent	GTG FISH	growth retardation	{1162}
RC/O- 0X- p22.33q28/ 1-2	male/ 4y	PBL	mat	46,r(X)(p22.33-p22.32::p22.33->q28),Y aCGH: in Xpter ~1Mb loss and in Xp22.33p22.32 ~2.3Mb dup	GTG aCGH	growth retardation	{1166}
RC/O- 0X- p11.23q28/ 1-1a and 1-1b	female/ 28y	PBL	mat	46,X,r(X)(p11.23q28) dynamic mosaicism: 45,X[35]/46,X,r(X)[7]	GTG FISH	infertility	{541, case 27}

Cases with clinical findings (W)

case no.	gender/ age at diagnosis	studied material	de novo/ inherited	karyotype	test methods	general clinical symptoms	Reference
RC/W- 0X- p22.?3q2?8/ 1-1	female/ 22y	PBL	?dn	46,X,r(X)(p22.?3q2?8) dynamic mosaicism: 45,X/46,X,r(X)/47,XX,r(X)x2	Solid staining	Turner syndrome	{1140}
RC/W- 0X- p22.?3q2?8/ 1-2	female/ 5y	PBL	?dn	46,X,r(X)(p22.?3q2?8) dynamic mosaicism	Solid staining	Turner syndrome	{1141}
RC/W- 0X- p22.?3q2?8/ 1-3	female/ 22y	PBL	?dn	46,X,r(X)(p22.?3q2?8) dynamic mosaicism: 45,X/46,X,r(X)/47,XX,r(X)x2	Solid staining	gonadal dysgenesis	{1142}
RC/W- 0X- p22.?3q2?8/ 1-4	female/ 22y	PBL	?dn	46,X,r(X)(p22.?3q2?8)	Solid staining	gonadal dysgenesis	{1143}
RC/W- 0X- p22.?3q2?8/ 1-5	female/ 13y	PBL	?dn	46,X,r(X)(p22.?3q2?8) dynamic mosaicism	Solid staining	mild Turner syndrome	{1144}
RC/W- 0X- p22.?3q2?8/ 1-6	female/ n.a.	PBL	?dn	46,X,r(X)(p22.?3q2?8)	Solid staining	Turner syndrome	{1145} literature not accessible
RC/W- 0X- p22.?3q2?8/ 1-7	female/ n.a.	PBL	?dn	46,X,r(X)(p22.?3q2?8)	Solid staining	Turner syndrome	{1146} literature not accessible
RC/W- 0X- p22.?3q2?8/ 1-8	female/ n.a.	PBL	?dn	46,X,r(X)(p22.?3q2?8)	Solid staining	Turner syndrome	{1147} literature not accessible
RC/W- 0X- p22.?3q2?8/ 1-9	female/ n.a.	PBL	?dn	46,X,r(X)(p22.?3q2?8)	GTG	Turner syndrome	{1148} literature not accessible
RC/W- 0X- p22.?3q2?8/ 1-10	female/ n.a.	PBL	?dn	46,X,r(X)(p22.?3q2?8)	GTG	Turner syndrome	{1149} literature not accessible
RC/W- 0X- p22.?3q2?8/ 1-11	female/ ~1y	PBL	?dn	46,X,r(X)(p22.?3q2?8) dynamic mosaicism: 45,X/46,X,r(X)	Solid staining	Turner syndrome	{1150}
RC/W- 0X- p22.?3q2?8/ 1-11	female/ 21y	PBL	?dn	46,X,r(X)(p22.?3q2?8) dynamic mosaicism	Solid staining	Turner syndrome	{1151}
RC/W- 0X- p22.?3q2?8/ 1-12	female/ 24y	PBL	?dn	46,X,r(X)(p22.?3q2?8) dynamic mosaicism	GTG	Turner syndrome	{1152, case 3}
RC/W- 0X- p22.?3q2?8/ 1-13	female/ 8y	PBL	dn	46,X,r(X)(p22.?3q2?8) dynamic mosaicism: 45,X[33]/46,X,r(X)[7]	GTG	Turner syndrome	{624, case 9}
RC/W- 0X- p22.?3q2?8/ 1-14	female/ 13y	PBL	dn	46,X,r(X)(p22.?3q2?8) dynamic mosaicism: 45,X[21]/46,X,r(X)[9]	GTG	Turner syndrome	{624, case 5}
RC/W- 0X- p22.?3q2?8/ 1-15	female/ 12y	PBL	dn	46,X,r(X)(p22.?3q2?8) dynamic mosaicism: 45,Х[17]/46,Х,r(Х)[17]	GTG	Turner syndrome	{915, case 3}
RC/W- 0X- p22.?3q2?8/ 1-16	female/ n.a.	PBL	?dn	46,X,r(X)(p22.?3q2?8)	GTG PRINS	Turner syndrome	{582} literature not accessible
RC/W- 0X- p22.?3q2?8/ 1-17a and 17b	female/ 12y	PBL	mat	46,X,r(X)(p22.?3q2?8) dynamic mosaicism	GTG	Turner syndrome	{1153}
RC/W- 0X- p22.?3q2?8/ 1-18	female/ n.a.	PBL	?dn	46,X,r(X)(p22.?3q2?8)	GTG	Turner syndrome	{1240, case 2}
RC/W- 0X- p22q27/ 1-1	female/ newborn	PBL	dn	46,X,r(X)(p22q27) dynamic mosaicism: 45,X[65]/46,X,r(X)[35]	GTG	Turner syndrome	{1155}
RC/W- 0X- p22.3q24/ 1-1	female/ child	PBL	dn	46,X,r(X)(p22.3q24) dynamic mosaicism: 45,X[191]/46,X,r(X)(p22.3q24)[9]	GTG	Turner syndrome	{1164}
RC/W- 0X- p22.3q27/ 1-1	female/ child	PBL	mat	46,X,r(X)(p22.3q27) dynamic mosaicism: 45,X[33]/46,X,r(X)[17]	GTG	Turner syndrome	{1159}
RC/W- 0X- p22.3q28/ 1-1	female/ newborn	PBL	dn	46,X,r(X)(p22.3q28) dynamic mosaicism: 45,X[36]/46,X,r(X)[14]	GTG	Turner syndrome	{624, case 12; 592, case 13}
RC/W- 0X- p22.3q28/ 1-2	female/ 32y	PBL	mat	46,X,r(X)(p22.3q28)	GTG	Turner syndrome	{914}
RC/W- 0X- p22.3q28/ 1-3a and 1-3b	female/ child	PBL	mat	46,X,r(X)(p22.3q28) dynamic mosaicism: 45,X/46,X,r(X) FISH: terminal duplication in Xp ~12Mb and in Xq ~0.1Mb	GTG FISH	Turner syndrome	{1160}
RC/W- 0X- p22.33q11.2/ 1-1	female/ adult	PBL	?dn	46,X,r(X)(p22.33q11.2)	GTG FISH	Turner syndrome	{1161, case 8}
RC/W- 0X- p22.33q28/ 1-1	female/ adult	PBL	?dn	46,X,r(X)(p22.33q28) FISH: no subtelomere deletions	GTG FISH	Turner syndrome	{1161, case 38}
RC/W- 0X- p22.2q23/ 1-1	female/ child	PBL	?dn	46,XY,r(X)(p22.2q23) dynamic mosaicism: 45,X[76]/46,X,r(X)[24]	GTG	Turner syndrome	{1165}
RC/W- 0X- p22.2q23/ 1-2	female/ child	PBL	?dn	46,XY,r(X)(p22.2q23) dynamic mosaicism: 45,X[17]/46,X,r(X)[16] aCGH: ~11.4Mb loss in Xpter and ~40Mb loss in Xqter	GTG aCGH	Turner syndrome	{1240, case 15}
RC/W- 0X- p22.21q22/ 1-1	male/ 11y	PBL	?dn	46,XY,r(X)(p22.1q22) dynamic mosaicism: 47,XXY/47,XY,r(X)	GTG	Klinefelter syndrome	{915, case 2}
RC/W- 0X- p22.21q22.2/ 1-1	female/ 11y	PBL	dn	46,X,r(X)(p22.1q22) dynamic mosaicism: 45,X[83]/46,X,r(X)[16]/47,X,dr(X)x2[1]	GTG	Turner syndrome	{909}
RC/W- 0X- p22.1q22.2/ 1-1	female/ 8y	PBL	dn	46,X,r(X)(p22.1q23) dynamic mosaicism: 45,X[18]/46,X,+r(X)[11]4/6,X,dr(X)[1]	GTG FISH	Turner syndrome	{913}
RC/W- 0X- p22.1q24/ 1-1	female/ 5y	PBL	?dn	46,X,r(X)(p22.1q23) dynamic mosaicism	GTG	Turner syndrome	{1154}
RC/W- 0X- p22.1q28/ 1-1	female/ 16y	PBL	?dn	46,X,r(X)(p22.1q28) dynamic mosaicism: 46,X,del(X)(p22.1)[35]/45,X [19]/46,X,r(X)(p22.1q28)[6]	GTG	Turner syndrome	{1163}
RC/W- 0X- p22.13q13.3/ 1-1	female/ adult	PBL	?dn	46,X,r(X)(p22.13q13.3)	GTG FISH	Turner syndrome	{1161, case 3}
RC/W- 0X- p22.13q21.1/ 1-1	female/ adult	PBL	?dn	46,X,r(X)(p22.13q21.1)	GTG FISH	Turner syndrome	{1161, case 2}
RC/W- 0X- p22.13q21.3/ 1-1	female/ adult	PBL	?dn	46,X,r(X)(p22.13q21.3)	GTG FISH	Turner syndrome	{1161, case 1}
RC/W- 0X- p21q27/ 1-1	female/ 21y	PBL	?dn	46,X,r(X)(p21q27) dynamic mosaicism	GTG	Turner syndrome	{1158}
RC/W- 0X- p21.2q21.1/ 1-1	female/ 21y	PBL	?dn	46,X,r(X)(p21.2q21.1)	GTG FISH	Turner syndrome	{1161, case 5}
RC/W- 0X- p21.2q21.1/ 1-1	female/ 21y	PBL	?dn	46,X,r(X)(p21.2q21.1)	GTG FISH	Turner syndrome	{1161, case 6}
RC/W- 0X- p21.2q21.2/ 1-1	female/ 21y	PBL	?dn	46,X,r(X)(p21.2q21.2)	GTG FISH	Turner syndrome	{1161, case 9}
RC/W- 0X- p21.2q21.2/ 1-2	female/ 21y	PBL	?dn	46,X,r(X)(p21.2q21.2)	GTG FISH	Turner syndrome	{1161, case 10}
RC/W- 0X- p21.3q13.3/ 1-1	female/ 21y	PBL	?dn	46,X,r(X)(p21.3q13.3)	GTG FISH	Turner syndrome	{1161, case 4}
RC/W- 0X- p21.2q25/ 1-1	female/ adult	PBL	?dn	46,X,r(X)(p21.2q25)	GTG FISH	Turner syndrome	{1161, case 7}
RC/W- 0X- p11.4q27.2/ 1-1	female/ adult	PBL	?dn	46,X,r(X)(p11.4q27.2) dynamic mosaicism: 45,X[12]/46,X,r(X)[8] aCGH: ~37.7Mb loss in Xpter and ~12.2Mb loss in Xqter	GTG aCGH	Turner syndrome	{1240, case 17}
RC/W- 0X- p11.23q13.3/ 1-1	female/ adult	PBL	?dn	46,X,r(X)(p11.23q13.3)	GTG FISH	Turner syndrome	{1161, case 17}
RC/W- 0X- p11.23q21.1/ 1-1	female/ adult	PBL	?dn	46,X,r(X)(p11.23q21.1)	GTG FISH	Turner syndrome	{1161, case 16}
RC/W- 0X- p11.23q23/ 1-1	female/ adult	PBL	?dn	46,X,r(X)(p11.23q23)	GTG FISH	Turner syndrome	{1161, case 21}
RC/W- 0X- p11.23q24/ 1-1	female/ adult	PBL	?dn	46,X,r(X)(p11.23q24)	GTG FISH	Turner syndrome	{1161, case 18}
RC/W- 0X- p11.23q28/ 1-1	female/ adult	PBL	?dn	46,X,r(X)(p11.23q28)	GTG FISH	Turner syndrome	{1161, case 19}
RC/W- 0X- p11.23q28/ 1-2	female/ adult	PBL	?dn	46,X,r(X)(p11.23q28)	GTG FISH	Turner syndrome	{1161, case 20}
RC/W- 0X- p11q24/ 1-1	female/ 9y	PBL	?dn	46,X,r(X)(p11q24) dynamic mosaicism: 45,X[70]/46,X,r(X)[30]	GTG	Turner syndrome	{915, case 1}
RC/W- 0X- p11.1q24/ 1-2	female/ 16y	PBL	?dn	46,X,r(X)(p11.1q24) dynamic mosaicism: 45,X[56]/46,X,r(X)[44]	GTG	Turner syndrome	{541, case 24}