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ChromosOmics - Database

- CHROMOSOME 9 -

most common clinical findings acc to Orphanet and this page
(variable clinical features)

- DD = developmental delay (including intellectual disability)
- growth retardation
- microcephaly
- DYS = dysmorphic facial features
- also possible: dermatological features (= dispigmentation incl. café-au-lait spots), sex reversal
- theoretically to be expected: 9p subtelomere deletion syndrome and / or 9q subtelomere deletion syndrome

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- 09- p24.3q34.3/ 1-1	male/ 30y	PBL	?dn	46,XXY,r(9)(p24.3q34.3) dynamic mosaicism: 46,XY,r(9)(p24.3q34.3)[42]/45,XY,-9[5]/46,XY[3] Subtelomer 9pter absent and 9qter present absent acc. to aCGH loss distal from 0.44 Mb and distal from 141.03Mb		GTG FISH aCGH	Azoospermia	{1, case RC9-3; 182}

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- 09- p2?4q3?4/ 1-1	male/ 2m	PBL	dn	46,XY,r(9)(p2?4q3?4) dynamic mosaicism: 45,XY,-9[46%]/46,XY,r(9)[44%]	solid staining	DD, microcephaly, growth retardation, DYS	{188; 189 }
RC/W- 09- p2?4q3?4/ 1-2	female/ 22y	PBL	dn	46,XX,r(9)(p2?4q3?4) dynamic mosaicism	GTG	DD, microcephaly, growth retardation, DYS	{190 }
RC/W- 09- p2?4q3?4/ 1-3	male/ 4y	PBL	dn	46,XY,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS, ambigous genitalia	{193 }
RC/W- 09- p2?4q3?4/ 1-4	male/ 12y	PBL	dn	46,XY,r(9)(p2?4q3?4) dynamic mosaicism - double ring in 2/25 and -9 in 1/25 cells	GTG	DD, microcephaly, growth retardation, DYS	{196, case 2 }
RC/W- 09- p2?4q3?4/ 1-5	female/ 3m	PBL	dn	46,XX,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS	{204 }
RC/W- 09- p2?4q3?4/ 1-6	n.a./ child	PBL	?dn	46,XY,r(9)(p2?4q3?4)	?GTG	DD, microcephaly, growth retardation, DYS	{207, 1 case }
RC/W- 09- p2?4q3?4/ 1-7	male/ newborn	PBL	?dn	46,XY,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS	{219 }
RC/W- 09- p2?4q3?4/ 1-8	n.a./ ?y	PBL	?dn	46,XN,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS	{189 } literature not accessible
RC/W- 09- p2?4q3?4/ 1-9	n.a./ ?y	PBL	?dn	46,XN,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS	{199, 200 } literature not accessible
RC/W- 09- p2?4q3?4/ 1-10	n.a./ ?y	PBL	?dn	46,XN,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS	{205 } literature not accessible
RC/W- 09- p2?4q3?4/ 1-11	male/ newborn	PBL	?dn	46,XY,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS	{206 } literature not accessible
RC/W- 09- p2?4q3?4/ 1-12	n.a./ ?y	PBL	?dn	46,XN,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS	{208 } literature not accessible
RC/W- 09- p2?4q3?4/ 1-13	n.a./ ?y	PBL	?dn	46,XN,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS	{210, 1 case } literature not accessible
RC/W- 09- p2?4q3?4/ 1-14	n.a./ ?y	PBL	?dn	46,XN,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS	{212 } literature not accessible
RC/W- 09- p2?4q3?4/ 1-15	n.a./ ?y	PBL	?dn	46,XN,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS	{213 } literature not accessible
RC/W- 09- p2?4q3?4/ 1-16	n.a./ ?y	PBL	?dn	46,XN,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS	{220 } literature not accessible
RC/W- 09- p2?4q3?4/ 1-17	n.a./ ?y	PBL	?dn	46,XN,r(9)(p2?4q3?4)	GTG	DD, microcephaly, growth retardation, DYS	{221 } literature not accessible
RC/W- 09- p2?4q3?4/ 1-18	male/ 0.25y	PBL	dn	46,XY,r(9)(p2?4q3?4)	GTG	DD, DYS	{901 }
RC/W- 09- p24q34/ 1-1	male/ 3y	PBL	dn	46,XY,r(9)(p24q34)	GTG	DD, microcephaly, growth retardation, DYS	{191 }
RC/W- 09- p24q34/ 1-2	male/ 3m	PBL	dn	46,XY,r(9)(p24q34)	GTG	DD, microcephaly, growth retardation, DYS	{192 }
RC/W- 09- p24q34/ 1-3	male/ newborn	PBL	?dn	46,XY,r(9)(p24q34) dynamic mosaicism - double ring in 7/100 cells	GTG	DD, microcephaly, growth retardation, DYS; died at 9 days	{195 }
RC/W- 09- p24q34/ 1-4	female/ 25y	PBL	?dn	46,XX,r(9)(p24q34) dynamic mosaicism with -9 and dr(9)	GTG	DD, microcephaly, growth retardation, DYS	{197 }
RC/W- 09- p24q34/ 1-5	male/ 3y	PBL	dn	46,XY,r(9)(p24q34) dynamic mosaicismwith -9 and dr(9)	GTG	DD, microcephaly, growth retardation, DYS	{209 }
RC/W- 09- p24q34/ 1-6	female/ 9y	PBL	dn	46,XX,r(9)(p24q34) dynamic mosaicism	GTG	DD, microcephaly, growth retardation, DYS	{211 }
RC/W- 09- p24q34/ 1-7	male/ 8m	PBL	dn	46,XY,r(9)(p24q34)	GTG	DD, microcephaly, growth retardation, DYS	{217 }
RC/W- 09- p24q34/ 1-8	male/ newborn	PBL	dn	46,XY,r(9)(p24q34)	GTG	DD, DYS, heart disease	{624, case 1 }
RC/W- 09- p24q34/ 1-9	female/ 8y	PBL	dn	46,XX,r(9)(p24q34)	GTG	DD, growth retardation, epilepsy	{624, case 2 }
RC/W- 09- p24q34/ 1-10	male/ 9y	PBL	?dn	46,XY,r(9)(p24q34)	GTG	DD, DYS	{1190}
RC/W- 09- p24.3q34.3/ 1-1	male/ prenatal	AF	dn	46,XY,r(9)(p24.3q34.3) dynamic mosaicism: 5,XY,-9[9]/46,XY,r(9)(p24q34.3)[34]/46,XY,idic r(9)(p24q34.3;p24q34.3)[3] Subtelomer 9pter and 9qter absent	GTG FISH	DD, microcephaly, growth retardation, DYS, micropenis; TOP	{216 }
RC/W- 09- p24.3q34.3/ 1-2	female/ child	PBL	dn	46,XX,r(9)(p24.3q34.?3) dynamic mosaicism: 45,X,-9[49/ 46,XX,r(9)(p24q34)[92]/46,XX,r(9;9)(p24q34;p24q34)[4] Subtelomer 9pter and 9qter absent	GTG FISH	DD, microcephaly, growth retardation, DYS	{218 }
RC/W- 09- p24.3q34.3/ 1-3	female/ 2m	PBL	dn	46,XX,r(9)(p24.3q34.3) dynamic mosaicism: 45,XX,-9[4]/46,XX,r(9)(p24q34)[56] acc. to aCGH loss in 9p of 0.82Mb and in 9q of 0.67Mb	GTG aCGH	DD, microcephaly, growth retardation, DYS	{1, case RC9-7; 186}
RC/W- 09- p24.3q34.3/ 1-4	female/ ~0.5y	PBL	?dn	46,XX,r(9)(p24.3q34.3) dynamic mosaicism: 46,XY,r(9)[45]/45,XX,-9[5] Subtelomer 9pter sent and 9qter present acc. to aCGH in 9p 0.23Mb loss	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, dispigmentation, retinal pigmentation	{625, case 9-2; 64}
RC/W- 09- p24.3q34.3/ 1-5	male/ ~9m	PBL	dn	46,XY,r(9)(p24.3q34.?3) Subtelomer 9pter present and 9qter absent	GTG FISH	DD, microcephaly, growth retardation, DYS	{215, case 2 }
RC/W- 09- p24.3q34.3/ 2-1	male/ 2y	PBL	dn	46,XY,r(9)(p24.3->p24.3::p22.3->q34.3) dynamic mosaicism: 46,XY,r(9)(p22q34)[89]/45,XY,-9[4]/r-var[7] Subtelomer 9pter and 9qter present acc. to aCGH loss of 15.7 Mb from 9p24.3 to 9p22.3	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS	{1, case RC9-4; 183}
RC/W- 09- p24.3q34.3/ 3-1	male, phenotypically female!/ 0.5y	PBL	dn	46,XY,r(9)(p24.3->p24.3::p23->q34.3) dynamic mosaicism: 45,XY,-9[3]/46,XY,r(9)[96]/r-var[6] acc. to aCGH loss of 9.6 Mb from 9p24.3 to 9p23 from 0.17-9.7Mb	GTG aCGH	sex-reversal male to female; DD, microcephaly, growth retardation, DYS	{1, case RC9-5; 184}
RC/W- 09- p24.3q34.3/ 4-1	male, phenotypically female!/ 0.5y	PBL	?dn	46,XY,r(9)(:p24.3->p22.3::p24.3->q34.3) dynamic mosaicism: 46,XY,r(9)[29].45,XY,-9[8]/r-var[2]/46,XY[1] acc. to aCGH loss in 9p of 1.25 Mb and gain of 13Mb in 9p24.3 to p22.3: 1.48-14.51 Mb	GTG FISH aCGH	sex-reversal male to female; DD, microcephaly, growth retardation, DYS	{1, case RC9-6; 185}
RC/W- 09- p24.3q34.3/ 5-1	male/ 22y	PBL	?dn	46,XY,r(9)(:p24.3->q34.11::q33.2->q34.3) dynamic mosaicism: 46,XY,r(9)[100]/45,XY,-9[20] acc. to aCGH in 9p 0.41Mkb loss and 0.88Mb at 9q. also interstitial duplication of 5.88Mb at 9q33.2q34.11.	GTG aCGH WGS	DD, microcephaly, growth retardation, DYS	{1, case RC9-8; 187}
RC/W- 09- p24.3q34.3/ 6-1	female/ 0.5y	PBL	dn	46,XY,r(9)(:p22.3->p24.3::p24.3->q34.3) dynamic mosaicism: 10% subtleomere-FISH: 9pter present, 9qter absent	GTG FISH	DD, microcephaly, growth retardation, DYS	{214}
RC/W- 09- p24.2q34.3/ 1-1	female/ prenatal	AF	dn	46,XX,r(9)(p24.2q34.3) dynamic mosaicism: 46,XX,r(9)(p24q34)/45,XX,-9[0.16] acc. to aCGH loss in 9p 2.57Mb and 0.15Mb in 9p24.1, and 2.6Mb in 9q	GTG aCGH	DD, microcephaly, growth retardation, DYS; TOP	{1, case RC9-2; 181}
RC/W- 09- p24.1q34.3/ 1-1	male/ newborn	PBL	?dn	46,XX,r(9)(p24.1q34.3)	GTG	DD, microcephaly, growth retardation, DYS	{201 }
RC/W- 09- p23q34.3/ 1-1	female/ ~0.5y	PBL	?dn	46,XX,r(9)(p23q34.3) dynamic mosaicism: 46,XX,r(9)(p23q34.3)[96]/45,XX,-9[4] acc. to aCGH in 9p 12Mb and in 9q 0.5Mb loss	GTG MLPA aCGH	DD, microcephaly, growth retardation, DYS	{1, case RC9-1; 180}
RC/W- 09- p23q34.3/ 1-2	female/ newborn	PBL	?dn	46,XX,r(9)(p23q34.3) dynamic mosaicism: 46,XX,r(9)[38]/45,XX,-9[4]/46,XX,dr(9)(p23)[4]/46,XX,idic(9)(p23)[3]/47,XX,r(9)x2[1] Subtelomer 9pter absent and 9qter present	GTG FISH	DYS, heart defect	{625, case 9-1 }
RC/W- 09- p23q33/ 2-1	male/ 12y	PBL	?dn	46,XY,r(9)(p23q33) dynamic mosaicism: in 26/121 cells studied 46,XY (2x) or dic rings or var	GTG	DD, microcephaly, growth retardation, DYS	{194 }
RC/W- 09- p22q34/ 1-1	male/ newborn	PBL	?dn	46,XY,r(9)(p22q34) dynamic mosaicism: in 22/100 cells ring opening as del(9)(p22)	GTG	DD, microcephaly, growth retardation, DYS	{202; 203 }