TL

ChromosOmics - Database

- CHROMOSOME 21 -

Cases without
clinical findings

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

- many cases - ~30% of reported ones - clinically (almost) normal!

- DD = developmental delay (including intellectual disability)
- growth retardation
- microcephaly
- DYS = dysmorphic facial features
- seizures
- also possible: dermatological features (= dispigmentation incl. café-au-lait spots), micrognathia, congenital heart defects, cerebral malformations

- also possible: cancer predisposition (leukemia)/ immunodeficiency

Down syndrome possible in combination with RC-21

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- 21- p1?1q2?2/ 1-1a and 1-1b	female/ adult	PBL	?dn	46,XX,r(21)(p1?1q2?2)	GTG	normal, child with Down syndrome due to extra r(21)	{928}
RC/O- 21- p1?1q2?2/ 1-2a and 1-2b	female/ newborn	PBL	mat	46,XX,r(21)(p1?1q2?2)	GTG	mild DD, DYS	{937, cases 3 and 4}
RC/O- 21- p1?1q2?2/ 1-3a and 1-3b	female/ 35y	PBL	dn	46,XX,r(21)(p1?1q2?2)	GTG	normal; son also with r(21) – also normal	{945, case 1}
RC/O- 21- p1?1q2?2/ 1-4	male/ 5y	PBL fibro	?dn	46,XY,r(21)(p1?1q2?2)	GTG	normal but ALL with 5y	{946, case 2}
RC/O- 21- p1?1q2?2/ 1-5	female/ 25y	PBL	?dn	46,XX,r(21)(p1?1q2?2)	GTG	normal infertile	{948}
RC/O- 21- p1?1q2?2/ 1-6	female/ 25y	PBL	?dn	46,XY,r(21)(p1?1q2?2)	GTG	normal female child with recombinant of r(21)	{949, case 1}
RC/O- 21- p1?1q2?2/ 1-7a and 1-7b	female/ adult	PBL	?dn	46,XX,r(21)(p1?1q2?2)	GTG	normal; male child with r(21); born normal	{949, case 2}
RC/O- 21- p1?1q2?2/ 1-8	female/ adult	PBL	dn	46,XX,r(21)(p1?1q2?2)	GTG	normal, first infertile; later one child normal, one with 45,XX,t(21;21)(p11;q11)	{952; 960} literature not accessible
RC/O- 21- p1?1q2?2/ 1-9a and 1-9b	female/ adult	PBL	?dn	46,XX,r(21)(p1?1q2?2)	GTG	normal; child with r(21); and Down syndrome	{973}
RC/O- 21- p1?1q2?2/ 1-10	male/ 28y	PBL	?dn	46,XY,r(21)(p1?1q2?2)	GTG	normal, infertile, azoospermia	{970; 991} literature not accessible
RC/O- 21- p1?1q2?2/ 1-11a and 1-11b	female/ adult	PBL	mat	46,XX,r(21)(p1?1q2?2)	GTG	normal mother and grandmother; child with i(21) and Down syndrome	{961} literature not accessible
RC/O- 21- p1?1q2?2/ 1-12	male/ 13y	PBL fibro	?dn	46,XY,r(21)(p1?1q2?2)	GTG	normal but ALL with 13y	{962}
RC/O- 21- p1?1q2?2/ 1-13a, 1-13b and 1-13c	female/ 7y	PBL	mat	46,XX,r(21)(p1?1q2?2)	GTG	normal mother and daughter (7y); same r(21) in unborn daughter	{969} literature not accessible
RC/O- 21- p1?1q2?2/ 1-14a and 1-14b-?d	female/ adult	PBL	familial	46,XX,r(21)(p1?1q2?2)	GTG	normal with idiopathic hypogonadotropic hypogonadism and some family members with Down syndrome in connection with r(21)	{985}
RC/O- 21- p1?1q2?2/ 1-15	female/ 36y	PBL fibro	?dn	46,XX,r(21)(p1?1q2?2)	GTG	normal but MDS with 36y	{986}
RC/O- 21- p1?1q2?2/ 1-16	male/ adult	PBL	?dn	46,XY,r(21)(p1?1q2?2)	GTG	normal infertile	{998, one case} literature not accessible
RC/O- 21- p1?1q2?2/ 1-17	male/ adult	PBL sperm	?dn	46,XY,r(21)(p1?1q2?2) in sperm only 0.1% of cells with r(21)	GTG	normal infertile	{1001}
RC/O- 21- p1?1q2?2/ 1-18a and 1-18b	n.a./ prenatal	AF	pat	46,XN,r(21)(p1?1q2?2)	GTG	normal at birth, father normal	{1, case RC22-35, 1060 case 1} literature not accessible
RC/O- 21- p11q22.3/ 1-1a and 1-1b	male/ 15y	PBL	mat	46,XY,r(21)(p11q22.3) molgen results cannot be attributed to individual families	GTG Molgen	normal mother and child	{963; 975, family 5}
RC/O- 21- p11q22.3/ 1-2a and 1-2b	female/ adult	PBL	?dn	46,XX,r(21)(p11q22.3) molgen results cannot be attributed to individual families	GTG Molgen	normal mother and 2 affected children	{975, family 1}
RC/O- 21- p11q22.3/ 1-3a to 1-3f	male/ adult	PBL	pat	46,XY,r(21)(p11q22.3) molgen results cannot be attributed to individual families	GTG Molgen	normal father and grandfather and 3 affected children	{975, family 2}
RC/O- 21- p11q22.3/ 1-4a to 1-4c	female/ adult	PBL	pat	46,XX,r(21)(p11q22.3) molgen results cannot be attributed to individual families	GTG Molgen	father and index normal, one daughter affected	{975, family 3}
RC/O- 21- p11q22.3/ 1-5a and 1-5b	female/ adult	PBL	?dn	46,XX,r(21)(p11q22.3) molgen results cannot be attributed to individual families	GTG Molgen	normal mother and one son affected	{975, family 4}
RC/O- 21- p11.2q22.3/ 1-6a and 1-6b	female/ 34y	PBL	mat	46,XX,r(21)(p11q22.3) dynamic mosaicism: 46,XX,r(21)[94]/46,XX,dr(21)[4]/ 45,XX,-21[2] acc. to aCGH ~3.4Mb loss at 21qter	GTG FISH aCGH	normal infertile mother normal	{1000}
RC/O- 21- p13q22.3/ 1-1	male/ ~1.2y	PBL	?dn	46,XY,r(21)(p13q22.3) dynamic mosaicism: 46,XY,r(21)/46,XX,dr(21)/45,XX,-21 Subtelomer 21qter absent	GTG FISH aCGH OGM	nomal with slight DD	{626, case NA06199; 932; 933; 954; 956; 968}
RC/O- 21- p13q22.3/ 1-2	male/ ~3y	PBL	?dn	46,XY,r(21)(p13q22.3) dynamic mosaicism: 46,XY,r(21)[44]/46,XY,dr(21)[2]/45,XY-21[4]	GTG	normal with growth retardation	{959}
RC/O- 21- p13q22.3/ 1-3a and 1-3b	female/ adult	PBL	?dn	46,XX,r(21)(p13q22.3)	GTG	normal mother; son with same r(21) and affected	{971}
RC/O- 21- p13q22.3/ 1-4a and 1-4b	female/ adult	PBL	mat	46,XX,r(21)(p13q22.3) dynamic mosaicism: 46,XX,r(21)[82-91]/46,XX,dr(21)[4-9]45,XX,-21[5-12] acc. to molgen ~1-3.5Mb loss at 22qter	GTG Molgen	(almost) normal mother and grandmother; daughter with same r(21) and affected	{974}
RC/O- 21- p13q22.3/ 1-5	male/ 33y	PBL sperm	dn	46,XY,r(21)(p13q22.3) dynamic mosaicism: 45,XY,-21[52]/46,XY,dr(21)[4]/46,XY,r(21)[44] Subtelomer 21qter present	GTG FISH	normal infertile azoospermia	{1018}
RC/O- 21- p12q22.3/ 1-6	male/ 32y	PBL	?dn	46,XY,r(21)(p12q22.3) dynamic mosaicism: 46,XY,r(21)[21]/ 46,XY,del(21)(q22.3)[13]/ 46,XY,r(21)(::p1?2->q22.3::q22.3->p1?2: :p1?2->q22.3::q22.3->p1?2::)[1]	GTG FISH	normal, infertile	{541, case 17; 592, case 9 }
RC/O- 21- p12q22.3/ 1-7	male/ 12y	PBL	derived from mat der(21)	46,XY,r(21)(p12q22.3) dynamic mosaicism: 46,XY,r(21)/45,XY,-21 Subtelomer 21qter absent	GTG FISH	normal, growth retardation	{988 }
RC/O- 21- p11.2q22.3/ 1-1	female/ 17y	PBL	?dn	46,XX,r(21)(p11.2q22.3) dynamic mosaicism: 46,XX,r(21)[33]/ 46,XX,dr(21)[5]/ 47,XX,r(21),+del(21)(p11.2:)[1]/ 46,XX[1]	GTG FISH	normal, POF	{541, case 20}
RC/O- 21- p11.2q22.3/ 1-2	male/ 34y	PBL	?dn	46,XY,r(21)(p11.2q22.3)	GTG	normal, infertile	{958}
RC/O- 21- p11.2q22.3/ 1-3	male/ 27y	PBL	?dn	46,XY,r(21)(p11.2q22.3)	GTG	normal, infertile, azoospermia	{953}
RC/O- 21- p11.2q22.3/ 1-4a and 1-4b	female/ adult	PBL	?dn	46,XX,r(21)(p11.2q22.3)	GTG	normal mother; daughter mildly affected with same r(21)	{972} literature not accessible
RC/O- 21- p11.2q22.3/ 1-5a and 1-5b	male/ ~1y	PBL	pat r(21) in 1/100 cells	46,XY,r(21)(p11.2q22.3) dynamic mosaicism: 46,XY,r(21)[34]/46,XY[14]/ 45,XY,-21[4] acc. to FISH and aCGH no loss or gains	GTG FISH aCGH	normal growth retardation	{1007}
RC/O- 21- p11.2q22.3/ 1-6	male/ 32y	PBL	?dn	46,XY,r(21)(p11.2q22.3) acc. to aCGH ~2.6Mb loss at 21qter	GTG FISH aCGH	normal infertile	{1035, case 1}
RC/O- 21- p11.2q22.3/ 1-7	male/ 32y	PBL	?dn	46,XY,r(21)(p11.2q22.3) acc. to aCGH ~1.5Mb loss at 21qter	GTG FISH aCGH	normal infertile	{1035, case 2}
RC/O- 21- p11.2q22.3/ 1-8a and 1-8b	female/ 40y	PBL	?dn	46,XX,r(21)(p11.2q22.3) dynamic mosaicism: 46,XX,r(21)[15]/45,XX,-21[35] acc. to aCGH ~1.1Mb loss at 21qter	GTG FISH aCGH	normal in fetus r(21) in all cells; sonography normal	{1008}
RC/O- 21- p11.2q22.3/ 1-9	female/ 18y	PBL	?dn	46,XX,r(21)(p11q22.3) dynamic mosaicism: 46,XX,der(21)t(21;21)(qter->q10::q22.3->qter),r(21)(:p11->22.1:)[92]/45,XX,der(21)t(21;21)(qter->q10::q22.1->qter),-21[8] acc. to aCGH no CNVs	GTG FISH aCGH	normal, infertile growth retardation	{1025}
RC/O- 21- p11.2q22.3/ 1-10	female/ 30y	PBL	dn	46,XX,r(21)(p11->q22.2::q22.3->q22.3) acc. to aCGH ~1.7Mb loss at 21qter and 4.9 Mb deletion in 21q22.2~q22.3	GTG aCGH	mild DD and DYS, infertile	{1006}
RC/O- 21- p11.2q22.3/ 2-1	female/ 30y	PBL	dn	46,XX,r(21)(p11.2->q22.2::q22.3->q22.3) dynamic mosaicism: 46,XX,r(21)[166]/46,XX,der(21)[60]/ 46,XX,dr(21)[4],45,XX,-21[20] acc. to aCGH ~4.6Mb loss at 21qter and ~3Mb loss at 21q22.2q22.3	GTG FISH aCGH	normal infertile	{1017} literature not accessible

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- 21- p1?1q2?2/ 1-1	male/ ~0.1y	PBL	dn	46,XY,r(21)(p1?1q2?2)	GTG	DD, microcephaly, growth retardation, DYS	{95, case 6}
RC/W- 21- p1?1q2?2/ 1-2	female/ ~0.5y	PBL fibros	?dn	46,XX,r(21)(p1?1q2?2) dynamic mosaicism: 46,XX,r(21)[91]/45,XX,-21[9]	GTG	DD, growth retardation, DYS	{917}
RC/W- 21- p1?1q2?2/ 1-3	female/ ~2y	PBL fibros	?dn	46,XX,r(21)(p1?1q2?2) dynamic mosaicism: only 45,XX,-21 found	GTG	DD, DYS	{938}
RC/W- 21- p1?1q2?2/ 1-4	female/ ~0.5y	PBL fibros	dn	46,XX,r(21)(p1?1q2?2)	GTG	DD, microcephaly, micrognathia, DYS	{919}
RC/W- 21- p1?1q2?2/ 1-5	female/ 10y	PBL	?dn	46,XX,r(21)(p1?1q2?2)	GTG	DD, DYS, seizures	{921} literature not accessible
RC/W- 21- p1?1q2?2/ 1-6	male/ 3.5y	PBL	?dn	46,XY,r(21)(p1?1q2?2) dynamic mosaicism: 45,XY,-21/46,XY,r(21)	GTG	DD, microcephaly, micrognathia, DYS	{924} literature not accessible
RC/W- 21- p1?1q2?2/ 1-7	n.a./ n.a.	PBL	?dn	46,XN,r(21)(p1?1q2?2)	GTG	DD, DYS	{925} literature not accessible
RC/W- 21- p1?1q2?2/ 1-8	n.a./ n.a.	PBL	?dn	46,XN,r(21)(p1?1q2?2)	GTG	DD, DYS	{926} literature not accessible
RC/W- 21- p1?1q2?2/ 1-9	female/ newborn	PBL	?dn	46,XX,r(21)(p1?1q2?2)	GTG	DD, growth retardation, micrognathia, DYS	{936} literature not accessible
RC/W- 21- p1?1q2?2/ 1-10	male/ child	PBL	?dn	46,X,inv(Y),r(21)(p1?1q2?2)	GTG	DD	{944} literature not accessible
RC/W- 21- p1?1q2?2/ 1-11	male/ 2y	PBL	?dn	46,XY,r(21)(p1?1q2?2)	GTG	DD, growth retardation, microcephaly, DYS	{934; 935}
RC/W- 21- p1?1q2?2/ 1-12	male/ 3.5y	PBL	?dn	6,XY,r(21)(p1?1q2?2) dynamic mosaicism: 46,XY,r(21)/45,XY,-21	GTG	DD, growth retardation, microcephaly, micrognathia	{584, case 3; 939; 940}
RC/W- 21- p1?1q2?2/ 1-13a and 1-13b	female/ 3y	PBL	mat	46,XX,r(21)(p1?1q2?2) dynamic mosaicism: 46,XX,r(21)/45,XX,-21	GTG	DD, growth retardation, microcephaly, DYS	{941} literature not accessible
RC/W- 21- p1?1q2?2/ 1-14	male/ 3y	PBL fibros	?dn	46,XY,r(21)(p1?1q2?2)	GTG	DD, growth retardation, microcephaly, micrognathia; acute megakaryoblastic leukaemia	{930}
RC/W- 21- p1?1q2?2/ 1-15	female/ newborn	PBL	?dn	46,XX,r(21)(p1?1q2?2)	GTG	DD, growth retardation, microcephaly	{937, case 2; 982, case 3}
RC/W- 21- p1?1q2?2/ 1-16	male/ ~2y	PBL	?dn	46,XY,r(21)(p1?1q2?2)	GTG	DD, microcephaly, DYS	{947} literature not accessible
RC/W- 21- p1?1q2?2/ 1-17	female/ child	PBL	?dn	46,XX,r(21)(p1?1q2?2) dynamic mosaicism: 46,XX,r(21)/45,XX,-21	GTG	DD, growth retardation, microcephaly	{950} literature not accessible
RC/W- 21- p1?1q2?2/ 1-18	male/ 2y	PBL	?dn	46,XY,r(21)(p1?1q2?2) dynamic mosaicism: 46,XX,r(21)/45,XX,-21	GTG	DD, growth retardation, DYS, hypotonia; at 2y seizures	{951, case 1}
RC/W- 21- p1?1q2?2/ 1-19	male/ newborn	PBL	?dn	46,XY,r(21)(p1?1q2?2)	GTG	DD, growth retardation, DYS, hypotonia	{955}
RC/W- 21- p1?1q2?2/ 1-20	male/ 14y	PBL	?dn	46,XY,r(21)(p1?1q2?2) dynamic mosaicism: 46,XY,r(21)/45,XY,-21	GTG	DD	{978} literature not accessible
RC/W- 21- p1?1q2?2/ 1-21	female/ 4y	PBL	?dn	46,XX,r(21)(p1?1q2?2) dynamic mosaicism: 46,XX,r(21)/45,XX,-21	GTG	DD; DYS	{979} literature not accessible
RC/W- 21- p1?1q2?2/ 1-22	female/ 4y	PBL	?dn	46,XX,r(21)(p1?1q2?2) dynamic mosaicism: 46,XY,r(21)/45,XX,-21	GTG	DD	{978} literature not accessible
RC/W- 21- p1?1q2?2/ 1-23	female/ n.a.	PBL	?dn	46,XX,r(21)(p1?1q2?2) dynamic mosaicism: 46,XX,+r(21)[92]/45,XX,-21[8]	GTG	DD, microcephaly	{982, case 2}
RC/W- 21- p1?1q2?2/ 1-24	male/ n.a.	PBL	?dn	46,XY,r(21)(p1?1q2?2) dynamic mosaicism: 46,XY,r(21)[80]/45,XY,-21[20]	GTG	DD, growth retardation, DYS	{982, case 3}
RC/W- 21- p1?1q2?2/ 1-25	n.a./ child	PBL	?dn	46,XN,r(21)(p1?1q2?2)	GTG	DD; seizures	{993} literature not accessible
RC/W- 21- p1?1q2?2/ 1-26	n.a./ child	PBL	?dn	46,XN,r(21)(p1?1q2?2)	GTG	DD	{1019} literature not accessible
RC/W- 21- p1?1q2?2/ 1-27	female/ ~2y	PBL	dn	46,XX,r(21)(p1?1q2?2)	GTG	DD, growth retardation, microcephaly, micrognathia, DYS	{1020}
RC/W- 21- p1?1q2?2/ 1-28	male/ 14y	PBL	?dn	46,XY,r(21)(p1?1q2?2)	GTG	DD	{999}
RC/W- 21- p1?1q2?2/ 1-19	male/ 1y	PBL	dn	46,XY,r(21)(p1?1q2?2) acc. to aCGH ~2.2Mb loss at 21qter	GTG aCGH	DD, slight DYS	{1012; 1027}
RC/W- 21- p1?1q2?2/ 1-20	female/ 3y	PBL	dn	46,XX,r(21)(p1?1q2?2)	GTG FISH aCGH	DD, growth retardation, DYS, dispigmentation	{1014}
RC/W- 21- p1?1q2?2/ 1-21	n.a./ n.a.	PBL	?dn	46,XN,r(21)(p1?1q2?2)	GTG	DD, DYS	{1228}
RC/W- 21- p1?1q2?2/ 2-1	male/ child	PBL	?dn	46,XY,r(21)(p1?1q2?2) dynamic mosaicism: 46,XY,r(21)/46,XY,trob(21;21)	GTG	Down syndrome	{918} literature not accessible
RC/W- 21- p1?1q2?2/ 2-2	n.a./ child	PBL	?dn	46,XN,r(21)(p1?1q2?2) dynamic mosaicism: 46,XN,r(21)[45]/46,XN,trob(21;21)[55	GTG	Down syndrome	{943, case 1} literature not accessible
RC/W- 21- p1?1q2?2/ 2-3	n.a./ child	PBL	?dn	46,XN,r(21)(p1?1q2?2) dynamic mosaicism: 46,XN,r(21)[80]/46,XN,trob(21;21)[20]	GTG	Down syndrome	{943, case 2} literature not accessible
RC/W- 21- p1?1q2?2/ 3-1	female/ 11y	PBL	?dn	46,XX,dr(21)(p1?1->q2?2::p1?1->q2?2)	GTG	Down syndrome DD, DYS, microcephaly, growth retardation, seizures	{922}
RC/W- 21- p1?1q2?2/ 3-2	female/ child	PBL	?dn	46,XX,r(21)(p11~21->q22.2::q22.2~21->p11	GTG	Down syndrome DD, DYS	{942}
RC/W- 21- p1?1q2?2/ 4-1	female/ ~1y	PBL	?dn	46,XX,r(21)(p1?1q2?2) dynamic mosaicism: 45,XX,-21[13]/46,XX,r(21)[375]/ 46,XX,dr(21)[6]47,XX,r(21),+(21)[5]	GTG	Down syndrome DD, DYS	{926}
RC/W- 21- p1?1q2?2/ 5-1	female/ n.a.	PBL	?dn	47,XX,+r(21)(p1?1q2?2) dynamic mosaicism: 47,XX,+r(21)[80]/46,XX[20]	GTG	Down syndrome	{982, case 6}
RC/W- 21- p1?1q2?2/ 6-1	male/ ~7y	PBL	?dn	46,XY,r(21)(p1?1q2?2) dynamic mosaicism: 47,XY,+21[28]/47,XY,+r(21)[4]/46,XY[68]	GTG	Down syndrome	{1013}
RC/W- 21- p11q22/ 1-1	male/ ~0.1y	PBL	dn	46,XY,r(21)(p11q22) dynamic mosaicism: 46,XY,dr(21)[10]/46,XY,r(21)[7]/ 45,XY,-21[7]/46,XY,der(21)(:p11->q22::p11->q22:)[2]/46,XY,der(21)(:p11->q22:)[1]/46,XY,r(21)(::p11->q22::p11q2?1::)[1]/46,XY,der(21)(:q22->p11::p11->q22:)[1]/47,XY,r(21)(::p11->q22::),+r(21,21)(::p11-q22::p11q22::)[1]	GTG FISH	DD, DYS	{541, case 15}
RC/W- 21- p11q22/ 1-2	male/ child	PBL fibros	?dn	46,XY,r(21)(p11q22) dynamic mosaicism: 46,XY,r(21)[75]/45,XY,-21[25]	GTG	DD, DYS	{920}
RC/W- 21- p11q22/ 1-3	n.a./ n.a.	PBL	?dn	46,XN,r(21)(p11q22)	GTG	DD, DYS	{923} literature not accessible
RC/W- 21- p11q22/ 1-4	male/ 3.5y	PBL fibro	dn	46,XY,r(21)(p11q22) dynamic mosaicism – r(21) only in 20% of fibros: 46,XY,r(21)/45,XX,-21	GTG	growth retardation, DD	{966}
RC/W- 21- p11q22/ 1-5	male/ ~1.5y	PBL	?dn	46,XN,r(21)(p11q22)	GTG	DD, hypogamma-globulinaemia	{983}
RC/W- 21- p11q22/ 1-6	male/ 2y	PBL	?dn	46,XY,r(21)(p11q22)	GTG	DD, growth retardation, micrognatia, mild DYS, acute megakaryoblastic leukaemia	{1034}
RC/W- 21- p11q22/ 2-1	male/ 0.25y	PBL	dn	46,XY,r(21)(p11q22) dynamic mosaicism: 46,XY,trob(21;21)(q10;q10)[141]/ 46,XY,r(21)[15]	GTG	Down syndrome	{1002}
RC/W- 21- p11q22/ 2-2	male/ newborn	PBL	?dn	46,XY,r(21)(p11q22) dynamic mosaicism: 46,XY,trob(21;21)(q10;q10)[6]/ 46,XY,r(21)[87]/45,XY,-21[21]	GTG	Down syndrome	{1005}
RC/W- 21- p11q22/ 3-1	female/ 3y	PBL	dn	46,XX,r(21)(p11q22.12) dynamic mosaicism: 46,XX,r(21)[88]/46,XX[12] aCGH results not detailed – acc. to figure loss of ~11Mb in 21qter	GTG FISH aCGH	DD, growth retardation	{1015}
RC/W- 21- p11q22.12/ 1-1	female/ 12y	PBL	?dn	46,XX,r(21)(p11->q22.11::q11.21->q22.12) dynamic mosaicism: 46,XX,r(21)[59]/46,XXdr(21)[1]46,XX[40] acc. to aCGH loss of ~12.5Mb in 21qter and gain of ~3.2Mb in 21q11.2q22.11	GTG aCGH	DD, growth retardation, microcephaly, DYS, at 12y thrombocytopenia	{1026}
RC/W- 21- p11q22.13 1-1	female/ newborn	PBL	dn	46,XX,r(21)(p11->q22.13::q11.2->q22.13) dynamic mosaicism: 46,XX,r(21)[42]/46,XX[8] acc. to aCGH results loss of ~9Mb in 21qter and gain of ~23.9Mb in 21q11.2q22.13	GTG aCGH	DD, growth retardation, DYS	{1016}
RC/W- 21- p11q22.2~22.3/ 1-1	male/ n.a.	PBL	?dn	46,XY,r(21)(p11q22.2~22.3) acc. to molgen ~4~6Mb loss at 22qter	GTG Molgen	DD, DYS, brain atrophy	{984, case CGM-14}
RC/W- 21- p11q22.2~22.3/ 1-2	male/ ~1y	PBL	?dn	46,XY,r(21)(p11q22.2~22.3)	GTG FISH	DD, growth retardation, DYS	{992}
RC/W- 21- p11q22.3/ 1-1a and 1-1b	female/ ~40y	PBL	?dn	46,XX,r(21)(p11q22.3)	GTG	mild DD, growth retardation, seizures; daughter also with r(21) – also affected and Downs syndrome features – here 3% with 47,XX,r(21)	{945, case 2}
RC/W- 21- p11q22.3/ 1-2	male/ newborn	PBL	?dn	46,XY,r(21)(p11q22.3) dynamic mosaicism: 46,XY,r(21)[91%] Subtelomer 21qter absent	GTG ISH	hydrocephalus	{967}
RC/W- 21- p11q22.3/ 1-3	male/ child	PBL	dn	46,XY,r(21)(p11q22.3) dynamic mosaicism: 46,XY,r(21)[91]/ 46,XY,dr(21)[5]/45,XY,-21[4] Subtelomer 21qter absent	GTG FISH	DD, growth retardation, DYS	{994} literature not accessible
RC/W- 21- p11q22.3/ 1-4	female/ newborn	PBL	?dn	46,XX,r(21)(p11q22.3) Subtelomer 21qter absent	GTG FISH	DD, growth retardation	{995}
RC/W- 21- p11q22.3/ 1-5	male/ 2y	fibros	?dn	46,XY,r(21)(p11q22.3) acc. to aCGH ~4.6Mb loss at 21qter	GTG FISH aCGH	DD, growth retardation, microcephaly, DYS	{1003}
RC/W- 21- p11q22.3/ 1-6	female/ 5y	PBL	dn	46,XX,r(21)(p11q22.3) dynamic mosaicism: 46,XX,r(21)[35]/46,XX[65] aCGH data unclear	GTG aCGH	DD, growth retardation, DYS, immunodeficiency	{1022}
RC/W- 21- p11q22.3/ 1-7	female/ 2y	PBL	?dn	46,XX,r(21)(p11q22.3) acc. to aCGH ~3.6Mb loss at 21qter	GTG aCGH	DD, growth retardation, DYS	{1023}
RC/W- 21- p11q22.3/ 1-8 to 1-9	n.a./ n.a.	PBL	?dn	46,XN,r(21)(p11q22.3) Subtelomer 21qter present	GTG BOBs	n.a.	{1024, 2 cases}
RC/W- 21- p11q22.3/ 1-10	n.a./ n.a.	PBL	?dn	46,XN,r(21)(p11q22.3) Subtelomer 21qter absent	GTG BOBs	n.a.	{1024, 1 case}
RC/W- 21- p11q22.3/ 1-11	female/ ~3	PBL	dn	46,XX,r(21)(p11q22.3) acc. to aCGH loss of ~6Mb in 21qter	GTG	DD, growth retardation, microcephaly, DYS	{1028, case RD_P26}
RC/W- 21- p11q22.3/ 2-1	female/ child	PBL fibros	?dn	46,XX,r(21)(p11q22.3) dynamic mosaicism: 46,XX,trob(21;21)(q10;q10)[22]/ 46,XX,r(21)[61]/45,XX,-21[17] Subtelomer 21qter absent	GTG FISH	Down syndrome; DD, growth retardation, microcephaly, DYS	{1004} literature not accessible
RC/W- 21- p11q22.3/ 2-1	male/ newborn	PBL	dn	46,XY,r(21)(p11->q22.3::q22.3->p11)	GTG FISH	Down syndrome	{980}
RC/W- 21- p11q22.3/ 3-1	female/ 3y	PBL	dn	46,XX,r(21)(p11->q22.13::q22.12->q22.3) dynamic mosaicism: 46,XX,r(21)[97]/45,XX,–21[3] acc. to aCGH ~6.7Mb loss at 21qter and 1.3Mb gain at 21q22.12~q22.13	GTG FISH aCGH	DD, growth retardation, DYS, hypotonia	{1011, case 1}
RC/W- 21- p11q22.3/ 4-1	male/ ~2y	PBL	?dn	46,XY,r(21)(p11->q22.12::q22.2->q22.3::q22.2->q22.3) dynamic mosaicism: 46,XY,r(21)[87]/45,XY,–21[13] acc. to aCGH ~2.2Mb loss at 21qter and 3.6 Mb loss at 21q22.12q22.2 and 4.6Mb gain at 21q22.2~q22.3	GTG FISH aCGH	DD, growth retardation, microcephaly, micrognathia, DYS, hypotonia	{1011, case 2}
RC/W- 21- p11q22.3/ 5-1	n.a./ postnatal	PBL	dn	46,XN,r(21)(p11->q22.2::q21.3->q22.3: :q22.2->22.3::q22.2->q22.3) acc. to aCGH dup 21q21.3-q22.2 of 11.2Mb and triplication of 21q22.2-q22.3 of 5.8Mb	GTG FISH aCGH	no details provided	{1099, case 30}
RC/W- 21- p13q22/ 1-1	n.a./ n.a.	PBL	?dn	46,XN,r(21)(p13q22)	GTG	DD, DYS	{584, case 1} literature not accessible
RC/W- 21- p13q22/ 1-2	n.a./ n.a.	PBL	?dn	46,XN,r(21)(p13q22)	GTG	DD, DYS	{584, case 2} literature not accessible
RC/W- 21- p13q22/ 1-3	male/ newborn	PBL	?dn	46,XY,r(21)(p13q22) dynamic mosaicism: 46,XY,r(21)[34]/46,XY,dr(21)[76]	GTG	Down syndrome	{964; 965}
RC/W- 21- p13q22/ 1-4	female/ ~5y	PBL fibros	?dn	46,XX,r(21)(p13q22) dynamic mosaicism: 46,XX,r(21)/45,XX,-2/46,XX 46,XX has isoUPD(21) and cell line grew with time in PBL	GTG	DD, micrognathia, growth retardation, DYS	{977, case 1}
RC/W- 21- p13q21.1/ 1-1	female/ ~5y	PBL	?dn	46,XX,der(18)t(18;21)(q23;q21.1), r(21)(p13q21.1) dynamic mosaicism: 46,XX,r(21)[48]/45,XX,-21[52]	GTG FISH	DD, microcephaly, growth retardation, DYS	{976}
RC/W- 21- p13q21.2/ 1-1	male/ prenatal	AF	dn	46,XY,r(21)(p13->q21.2::q21.2->q22.3) dynamic mosaicism: 46,XY,r(21)[15]/45,XY,-21[5]/46,XY,idic(21)[1] acc. to aCGH ~5Mb loss at 21qter and 2Mb loss at 21q21.2	GTG aCGH	DD, DYS, TOP	{1010}
RC/W- 21- p13q22.1/ 1-1	male/ prenatal	AF	?dn	46,XX,r(21)(p13q22.1) dynamic mosaicism: 46,XX,r(21)[64]/45,XX,-21[26]/ 46,XX[10]	GTG FISH	DD, DYS	{541, case 14}
RC/W- 21- p13q22.2/ 1-1	n.a./ prenatal	AF	dn	46,XN,r(21)(p13q22.2) dynamic mosaicism: 46,XN,r(21)[83]/45,XN,-21[18] acc to aCGH 7.4Mb loss in 21q	GTG aCGH	DD, DYS	{896}
RC/W- 21- p13q22.3/ 1-1	female/ 10y	PBL	?dn	46,XX,r(21)(p13q22.3) dynamic mosaicism: 46,XX,r(21)[91]/46,XX, idic(21)(p13)[4]/46,XX[5]	GTG FISH	DD, growth retardation	{996}
RC/W- 21- p13q22.3/ 1-2	male/ 13y	PBL	?dn	46,XY,r(21)(p13q22.3) dynamic mosaicism: 46,XY,r(21)[17]/45,XY,-21[3] Subtelomer 21qter absent	GTG MLPA	DD, seizures, DYS	{1009}
RC/W- 21- p13q22.3/ 2-1	female/ n.a.	PBL	?dn	46,XX,r(21)(p13->q22.3:::q22.3->p13) dynamic mosaicism: 46,XX,dr(21)[32]/45,XX,-21[2] Subtelomer 21qter absent	GTG FISH	Down syndrome	{595, case 38}
RC/W- 21- p12q22.1~22.2/ 1-1	male/ 0.1y	PBL fibros	?dn	46,XY,r(21)(p12q22.1~22.2) dynamic mosaicism: 46,XY,r(21)[94]/45,XY,-21[6]	GTG	DD, microcephaly, DYS	{929}
RC/W- 21- p12q22.3/ 1-1	female/ 11y	PBL	?dn	46,XX,r(21)(p12q22.3) dynamic mosaicism: 45,XX,-21[50%]/ 46,XX,r(21)[30%]/ 46,XX,del(21)(q22.3)[20%]	GTG FISH	DD, DYS	{541, case 13}
RC/W- 21- p12q22.3/ 1-2	male/ prenatal	AF	?dn	46,XY,r(21)(p12q22.3) dynamic mosaicism: 46,XY,r(21)[23]/ 46,XY,dr(21)[4]/45,XY,-21[2]/ 46,XY,r(21)(p12q21)[1]	GTG FISH	DYS; TOP	{541, case 16; 592, case 8}
RC/W- 21- p12q22.3/ 2-1	female/ prenatal	AF	?dn	46,XX,r(21)(p12->q22.3::q22.2->q22.3) dynamic mosaicism: 46,XX,r(21)[19]/45,XX,-21[13] acc. to aCGH ~1.9Mb loss at 21qter and gain of ~6Mb in 21q22.2q22.3	GTG aCGH	DD, DYS, TOP	{1030}
RC/W- 21- p12q22.3/ 3-1	n.a./ ~2.5y	AF	?dn	46,XN,r(21)(p12->q22.3::q22.1->q23) dynamic mosaicism: 46,XN,r(21)[83]/45,XN,-21[14]/46,XN,dr(21)(p12q22;q22p12)[3] acc. to aCGH loss of ~2.3Mb in 21qter and 5.1Mb quadruplication at 21q11.12q22.3	GTG aCGH	DD, DYS, TOP	{1032 case 2} literature not accessible
RC/W- 21- p12q22.3/ 4-1	n.a./ ~2.5y	AF	?dn	46,XN,r(21)(p12->q22.3::q22.3->p12) dynamic mosaicism: 46,XN,dr(21)[41]/45,XN,-21[9] acc. to aCGH loss of ~3Mb in 21qter and 30Mb quadruplication at 21q11.2q22.3	GTG aCGH	DD, DYS, TOP	{1032 case 1} literature not accessible
RC/W- 21- p11.2q22/ 1-1	female/ n.a.	PBL	?dn	47,XX,+r(21)(p11.2q22) dynamic mosaicism: 46,XX,+r(21)[14]/46,XX[76]/45,XX,-21[7]	GTG	Down syndrome, DD, growth retardation, MDS	{982, case 1}
RC/W- 21- p11.2q22/ 2-1	female/ 1y	PBL fibros	?dn	46,XX,r(21)(q22->p11.2::p11.2->q22) dynamic mosaicism: 46,XX,dic(21;21)(p11.2;p11.2)[5]/46,XX,dr(21)[45]	GTG	Down syndrome; DD, growth retardation, microcephaly; DYS, seizures	{987}
RC/W- 21- p11.2q22.1+q22.3/ 1-1	female/ ~2y	PBL	?dn	46,XX,r(21)(p11.2->q22.11: :q22.3->q11.1) dynamic mosaicism: 46,XX,r(21)[~80]/45,XX,-21[20]	GTG Molgen	DD, DYS, seizures, megakaryocytic leukemia	{982, case 7}
RC/W- 21- p11.2q22.3/ 1-1	n.a./ prenatal	AF	?dn	46,XN,r(21)(p11.2q22.3) dynamic mosaicism: 46,XN,der(21)(:q11.2->p11.1~11.2::p11.1~11.2->q22.3:)[8]/ 46,XN,del(21)(:p11.1~11.2->q22.3:)[7]/ 46,XN,r(21)[4]/45,XN,-21[1]	GTG FISH	DYS; TOP	{541, case 19}
RC/W- 21- p11.2q22.3/ 1-2	male/ 0.5y	PBL	?dn	46,XY,r(21)(p11.2q22.3) dynamic mosaicism: 46,XY,r(21)[77]/47,XY,r(21)x2[1]/ 45,XY,-21[2]	GTG	DYS, DD	{912}
RC/W- 21- p11.2q22.3/ 1-3	female/ newborn	PBL	dn	46,XX,r(21)(p11.2q22.3)	GTG	DD, micrognathia, DYS, heart disease	{624, case 7}
RC/W- 21- p11.2q22.3/ 1-4	female/ child	PBL	?dn	46,XX,r(21)(p11.2q22.3) dynamic mosaicism: 46,XX,r(21)/45,XX,-21	GTG	DD	{624, case 7} literature not accessible
RC/W- 21- p11.2q22.3/ 1-5	female/ 1y	PBL	?dn	46,XX,r(21)(p11.2q22.3) dynamic mosaicism: 46,XX,r(21)/46,XX,dr(21)/45,XX,-21	GTG	Down syndrome	{989}
RC/W- 21- p11.2q22.3/ 1-6	female/ prenatal	AF	?dn	46,XX,1ps,r(21)(p11.2q22.3) dynamic mosaicism: 46,XX,r(21)/45,XX,-21 acc. to aCGH 5Mb loss at 22qter	GTG aCGH	growth retardation, TOP	{990}
RC/W- 21- p11.2q22.3/ 2-1	female/ 4y	PBL	dn	46,XX,r(21)(p11.2q22.3) aCGH analysis showed four deletions along almost all the 21q chromosome, including 15.123 Mb and three duplications totaling 3.744 Mb. These alterations were located in the region from 21q11.2 to 21q22.3 and ranged from 0.57 to 8.04 Mb each one. Specifically, in 21q22, where the Down syndrome critical region is located, one duplication and two deletions were found	GTG FISH aCGH	DD, mild DYS, at 3y MDS	{1021}
RC/W- 21- p11.1q22.12/ 1-1	female/ ~2.5y	PBL	?dn	46,XX,r(21)(p11.1q22.12) dynamic mosaicism: 46,XX,r(21)[70]/45,XX,-21[10]/47,XX,r(21)x2)[1]/46,XX[10] acc. to FISH loss of ~12-14Mb in 21qter	GTG FISH	DD, growth retardation, microcephaly, DYS, hypotonia, seizures	{1031}
RC/W- 21- p11.1q22.2/ 1-1	male/ ~3.25y	PBL	?dn	46,XY,r(21)(p11.1q22.2)	GTG	DD, growth retardation, DYS	{625, case 21-1}
RC/W- 21- p11.1q22.?2/ 1-1	male/ prenatal	AF	?dn	46,XY,r(21)(p11.1q22.?2) dynamic mosaicism: 46,XY,r(21)[9]/ 46,XY,dr(21)[1]	GTG FISH	DD, microcephaly, growth retardation, DYS	{541, case 18}
RC/W- 21- p11.1q22.2/ 1-1	male/ prenatal	AF	?dn	46,XY,r(21)(11.1q22.2) dynamic mosaicism: 46,XY,r(21)(p11.1q22.2)[88]/ 45,XY,-21[7],46,XY[5]	GTG	sonography normal; TOP	{579, case 24}
RC/W- 21- p11.1q22.3/ 1-1	female/ prenatal	AF	dn	46,XX,r(21)(p11.2q22.3) acc. to aCGH ~4.7Mb loss at 21qter	GTG aCGH	DD, DYS, TOP	{1029}
RC/W- 21- p11.1q22.3/ 1-2	female/ ~3y	PBL	dn	46,XX,r(21)(p11.1q22.3) acc. to aCGH loss of ~5.4Mb in 21qter	GTG aCGH	DD, microcephaly, seizures from 3y	{1033}
RC/W- 21- p11.1q22.3/ 1-3	female/ 2y	PBL	?dn	46,XX,r(21)(p11.1q22.3) acc. to aCGH loss of ~4.5Mb in 21qter	GTG aCGH	DD, DYS, at 2y B-cell ALL	{1219}
RC/W- 21- p11.1q22.3/ 2-1	n.a./ child	PBL	?dn	46,XN,r(21)(q22.3->p11.1::p11.1->q22.3) dynamic mosaicism: 46,XN,dr(21)/46,XN,ddr(21)/45,XN,-21 Subtelomer 21qter present	GTG FISH	Down syndrome	{997}