TL

ChromosOmics - Database

- CHROMOSOME 14 -

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

- DD = developmental delay (including intellectual disability) -
late onset possible
- growth retardation - possibly more severe if IGH locus in 14q32.33 is lost
(hg19: 106,173,506-106,175,001
- microcephaly
- DYS = dysmorphic facial features
- retinal / macular pigmentation
- seizures - late onset possible
- also possible: dermatological features (= dispigmentation incl. café-au-lait spots)

Guideline for management of RC(14) patients see Ref 552

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-
14-
p13q32/
1-1

female/
adult

PBL

?dn

mat transmission to two male children

46,XX,r(14)(p13q32)[65]/ 45,XX,t(14q21q)[35]

dynamic mosaicism for cells with r(14) – ring size varability

GTG

Normal, 2 children with r(14) – more severely affected – no cells with t(14;21)

{402}

RC/O-
14-
p13q32.33/
2-1

female/
adult

PBL

mat transmission to three female children

46,XX,r(14)(p13q32.33)

dynamic mosaicism

cells with 45,XX,-14
Subtel 14qter present

GTG
FISH

Epilepsy until age of 2.5y

3 children with r(14) – all female
children in parts more severely affected

{382; 430, case BB0111}

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- 14- p1?3q24.3/ 1-1	female/ prenatal	AF	?dn	46,XX,r(14)(p1?3q24.3)	GTG	growth retardation, DYS, TOP	{541, case 10}
RC/W- 14- p1?1q3?2/ 1-1	female/ child	PBL	?dn	46,XX,r(14)(p1?1q3?2)	GTG	Ataxia telangiectasia and DD, microcephaly, growth retardation, DYS, retinal pigmentation	{375, case O }
RC/W- 14- p1?1q3?2/ 1-2	female/ child	PBL	?dn	46,XX,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS	{376} literature not accessible
RC/W- 14- p1?1q3?2/ 1-3 and 1-3b	n.a./ children monozyg. twins	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{377; 415} literature not accessible
RC/W- 14- p1?1q3?2/ 1-4	female/ ~1y	PBL	?dn	46,XX,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures, macular pigmentation	{378}
RC/W- 14- p1?1q3?2/ 1-5	female/ ~2y	PBL	?dn	46,XX,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{397}
RC/W- 14- p1?1q3?2/ 1-6	female/ newborn	PBL	?dn	46,XX,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, dispigmentation	{419}
RC/W- 14- p1?1q3?2/ 1-7	female/ newborn	PBL	?dn	46,XX,r(14)(p1?1q3?2)	GTG	DD, growth retardation, DYS, seizures, dispigmentation, retinal pigmentation	{420}
RC/W- 14- p1?1q3?2/ 1-8	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation	{418}
RC/W- 14- p1?1q3?2/ 1-9	male/ child	PBL	?dn	46,XY,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS	{381} literature not accessible
RC/W- 14- p1?1q3?2/ 1-10	male/ 1y	PBL, fibros	dn	46,XY,r(14)(p1?1q3?2) dynamic mosaicism: 46,Xy,r(14)/46,XX/45,XX,-14	GTG	DD, microcephaly, growth retardation, DYS, seizures	{383}
RC/W- 14- p1?1q3?2/ 1-11	male/ child	PBL	?dn	46,XY,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, macula pigmentation	{386} literature not accessible
RC/W- 14- p1?1q3?2/ 1-12	male/ 2m	PBL	?dn	46,XY,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{388} literature not accessible
RC/W- 14- p1?1q3?2/ 1-13	male/ 2m	PBL	?dn	46,XY,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation	{389, case 1} literature not accessible
RC/W- 14- p1?1q3?2/ 1-14	female/ 10y	PBL	?dn	46,XX,r(14)(p1?1q3?2) no detailed data available	GTG	DD, microcephaly, growth retardation, DYS, seizures, macula pigmentation	{443} literature not accessible
RC/W- 14- p1?1q3?2/ 1-15	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{389, case 3} literature not accessible
RC/W- 14- p1?1q3?2/ 1-16	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2) dynamic mosaicism	GTG	DD, microcephaly, growth retardation, DYS, seizures, retinal and macula pigmentation	{390} literature not accessible
RC/W- 14- p1?1q3?2/ 1-17	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{421} literature not accessible
RC/W- 14- p1?1q3?2/ 1-18	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{393, case 1} literature not accessible
RC/W- 14- p1?1q3?2/ 1-19	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{393, case 2} literature not accessible
RC/W- 14- p1?1q3?2/ 1-20	n.a./ n.a.	PBL	?dn	46,XN,del(5)(p?p?), r(14)(p1?1q3?2)	GTG	Cri du Chat syndrome, DD, microcephaly, growth retardation, DYS, seizures, macula pigmentation	{394} literature not accessible
RC/W- 14- p1?1q3?2/ 1-21	male/ n.a.	PBL	?dn	46,XY,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation	{395} literature not accessible
RC/W- 14- p1?1q3?2/ 1-22	male/ newborn	PBL	?dn	46,XY,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{400}
RC/W- 14- p1?1q3?2/ 1-23	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{405, case 1} literature not accessible
RC/W- 14- p1?1q3?2/ 1-24	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{405, case 2} literature not accessible
RC/W- 14- p1?1q3?2/ 1-25	n.a./ n.a.	PBL	?dn	46,XY,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{406, case 1} literature not accessible
RC/W- 14- p1?1q3?2/ 1-26	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, seizures	{408, case 1} literature not accessible
RC/W- 14- p1?1q3?2/ 1-27	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, seizures	{408, case 2} literature not accessible
RC/W- 14- p1?1q3?2/ 1-28	female/ 5y	PBL	?dn	46,XX,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{409}
RC/W- 14- p1?1q3?2/ 1-29	female/ prenatal	AF	?dn	46,XX,r(14)(p1?1q3?2) dynamic mosaicism: 46,XX,r(14)/45,XX,-14	GTG	DD, microcephaly, growth retardation, DYS, TOP	{411}
RC/W- 14- p1?1q3?2/ 1-30	male/ 1.5y	PBL	?dn	46,XY,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation	{412, case S.T.}
RC/W- 14- p1?1q3?2/ 1-31	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS	{413} literature not accessible
RC/W- 14- p1?1q3?2/ 1-32	female/ 29y	PBL	?dn	46,XX,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation	{416} literature not accessible
RC/W- 14- p1?1q3?2/ 1-33	n.a./ child	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS	{428} literature not accessible
RC/W- 14- p1?1q3?2/ 1-34	female/ ~0.3y	PBL	?dn	46,XX,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS	{436, case 4}
RC/W- 14- p1?1q3?2/ 1-35	male/ 7y	PBL	?dn	46,XY,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{449}
RC/W- 14- p1?1q3?2/ 1-36	female/ 0.5y	PBL	?dn	46,XX,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{450} literature not accessible
RC/W- 14- p1?1q3?2/ 1-37	female/ n.a.	PBL	?dn	47,XXX,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{457} literature not accessible
RC/W- 14- p1?1q3?2/ 1-38 to 1-50	6 female and 7 male/ 5 to 49y	PBL	?dn	46,XN,r(14)(p1?1q3?2) no detailed data available	GTG	DD, microcephaly, growth retardation, DYS, seizures	{447} literature not accessible
RC/W- 14- p1?1q3?2/ 1-51 to 1-57	female and male/ postnatal	PBL	?dn	46,XN,r(14)(p1?1q3?2) no detailed data available	GTG	DD, microcephaly, growth retardation, DYS, seizures	{538} 6 patients not included in 438 before
RC/W- 14- p1?1q3?2/ 1-58	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS	{578} no details provided in paper
RC/W- 14- p1?1q3?2/ 1-59	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	DD, microcephaly, growth retardation, DYS	{585} literature not accessible
RC/W- 14- p1?1q3?2/ 1-59	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p1?1q3?2)	GTG	seizures	{843, 1 case}
RC/W- 14- p1?1q3?2/ 2-1	male/ n.a.	PBL	?dn	46,XY,r(14)(p1?1q3?2) dynamic mosaicism: 46,XY,r(14)/46,XX/ iso psu dic(14)	GTG	Trisomy 14 syndrome, DD, microcephaly, growth retardation, DYS, seizures	{391} literature not accessible
RC/W- 14- p1?1q3?2/ 2-2	female/ 8y	PBL	?dn	46,XX,r(14)(p1?1q3?2) dynamic mosaicism: 46,XX,r(14)/46,XX,iso psu dic(14) /45,XX,-14/46,XX	GTG	Trisomy 14 syndrome, DD, microcephaly, growth retardation, DYS, seizures	{401}
RC/W- 14- p1?1q32.33/ 1-1	male/ n.a.	PBL	?dn	46,XY,r(14)(p1?1q32.33) BACs in14qter: loss of ~1.4Mb	GTG FISH	DD, microcephaly, growth retardation, DYS, seizures	{430, case CC0066}
RC/W- 14- p1?1q32.33/ 12	male/ ~0.3y	PBL	?dn	46,XY,r(14)(p1?1q32.33) dynamic mosaicism: 46,XY,r(14)(p1?1q32.33) 46,XY,r(14)[86]/45/XX,-14[14] Subtel 14q absent	GTG FISH	Seizures, DD	{436, case 2}
RC/W- 14- p1?1q32.33/ 13	male/ ~0.5y	PBL	?dn	46,XY,r(14)(p1?1q32.33) Subtel 14q present	GTG FISH	Seizures, DD, microcephaly, DYS	{436, case 3}
RC/W- 14- p13q32/ 1-1	male/ newborn	PBL	dn	46,XY,r(14)(p13q32)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{396}
RC/W- 14- p13q32/ 1-2	female/ ~1.25y	PBL	dn	46,XX,r(14)(p13q32) dynamic mosaicism: 46,XX,r(14)/ 46,XX,dr(14)/45,XX,-14	GTG	DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation	{385, case 1}
RC/W- 14- p13q32/ 1-3	female/ ~0.3y	PBL	?dn	46,XX,r(14)(p13q32) Subtel 14q absent	GTG FISH	DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation	{436, case 1}
RC/W- 14- p13q32/ 1-4	male/ 0.5y	PBL	?dn	46,XX,r(14)(p13q32) dynamic mosaicism: 46,XY,r(14)[~93%]/ 46,XY,r(14)(var)[~2%]/ 45,XY,-14[~5%]	GTG	DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation, dispigmentation	{75, case 3}
RC/W- 14- p13q32/ 2-1	male/ 36y	PBL	?dn	46,XY,r(14)(p13q32)[72]/ 46,XXr(14;14)(p11.1q32p11.1q32)[18]/45,XY,-14[1] Subtelomer 14qter present	GTG FISH	DD, macrocephaly, growth retardation, DYS, seizures	{432}
RC/W- 14- p13q32.3/ 1-1	female/ ~0.25y	PBL	dn	46,XY,r(14)(p13q32.3)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{398}
RC/W- 14- p13q32.3/ 1-2	female/ 2y	PBL	?dn	46,XX,r(14)(p13q32.3)	GTG	DD, seizures	{407}
RC/W- 14- p13q32.3/ 1-3	male/ 2y	PBL	?dn	46,XY,r(14)(p13q32.3) 46,XY,r(14)[28]/ 45,XY,-14[32]	GTG	DD, microcephaly, growth retardation, DYS, seizures	{451} literature not accessible
RC/W- 14- p13q32.3/ 1-4	female/ 4y	PBL	?dn	46,XX,r(14)(p13q32.3) 46,XY,r(14)[28]/ 45,XY,-14[32]	GTG	DD, seizures	{893}
RC/W- 14- p13q32.33/ 1-1	male/ 3y	PBL	dn	46,XY,r(14)(p13q32.33) dynamic mosaicism: At 22y: 46,XY,r(14)[~87%]/ 46,XY,r(14)(var)[~2%]/ 45,XY,-14[~11%] acc. to FISH and aCGH no loss in 14q – only telomeric sequences are lost	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation, dispigmentation	{75, case 2; 440; 456; 78, case 7; 541, case 9}
RC/W- 14- p13q32.3/ 1-2	male/ 1y	PBL	`?dn	46,XY,r(14)(p13q32.33) dynamic mosaicism: 46,XY,r(14)[~96%]/ 46,XY,dr(14)[~4%] acc. to FISH loss of ~0.15Mb at 14ter (possibly also 2 single BAC deletions in 14q22.1 and 14q24.2)	GTG BAC-array	DD, microcephaly, growth retardation, DYS, seizures	{442 }
RC/W- 14- p13q32.3/ 1-3	male/ prenatal	AF	dn	46,XY,r(14)(p13q32.33) dynamic mosaicism: 46,XY,r(14)[27]/ 45,XY,-14[3] acc. to FISH loss of ~1.2Mb at 14ter	GTG FISH	DD, microcephaly, growth retardation, DYS, seizures; TOP	{444 }
RC/W- 14- p12q24/ 1-1	female/ ~1y	PBL	dn	46,XX,r(14)(p12q24) dynamic mosaicism (few cells with 45,XX,-14)	GTG	DD, microcephaly, growth retardation, DYS, seizures, dispigmentation, macular pigmentation	{380}
RC/W- 14- p12q32/ 1-1	male/ 5y	PBL	?dn	46,XY,r(14)(p12q32)	GTG	DD, microcephaly, growth retardation, DYS	{561, case 1}
RC/W- 14- p12q32.2/ 1-1	female/ newborn	PBL	?dn	46,XX,r(14)(p12q32.2) dynamic mosaicism: 46,XX,r(14)(::p12->q32.2::q32.2->q23::)[20]/ 46,XX,r(14)(p12q32.2)[4]/ 46,XX,del(14)(q21)[1]/ 46,XX[1]	GTG	DD, DYS,	{541, case 8}
RC/W- 14- p12q32.3/ 1-1	female/ ~0.3y	PBL	dn	46,XX,r(14)(p12->q32.3: :q32.2->q32.12) dynamic mosaicism: 46,XX,r(14)[95]/46,XX,var r(14){5] acc. to aCGH in 14qter loss of ~2Mb and gain in 14q32.12-q32.33 (~10.5Mb)	GTG	DD, microcephaly, growth retardation, DYS	{433}
RC/W- 14- p12q32.31/ 1-1	male/ 1y	PBL	?dn	46,XY,r(14)(p12q32.31) dynamic mosaicism with 45,XY,-14 reported in abstract but not in main content of paper	GTG	DD, microcephaly, growth retardation, DYS, seizures	{426, case 3}
RC/W- 14- p12q32.31/ 1-2	female/ ~3y	PBL	?dn	46,XX,r(14)(p12q32.31) loss of 5Mb at 14qter	GTG aCGH	DD, DYS, seizures, dispigmentation	{454, case FG}
RC/W- 14- p12q32.33/ 1-1	male/ 17y	PBL	?dn	46,XY,r(14)(p12q32.33) dynamic mosaicism: 46,XY,r(14)/45,XY,−14	GTG	DD, microcephaly, growth retardation, DYS, seizures	{426, case 1}
RC/W- 14- p12q32.33/ 1-2	male/ n.a.	PBL	?dn	46,XY,r(14)(p12q32.33) acc. to aCGH2.5Mb loss in 14qter	GTG aCGH OGM	DD, microcephaly, micrognathia, growth retardation, DYS, seizures, scoliosis	{626, case NA07364; 627}
RC/W- 14- p11.2q32.2/ 1-1	female/ ~0.7y	PBL	dn	46,XY,r(14)(p11.2q32.2)	GTG	seizures	{830, case 1}
RC/W- 14- p11.2q32.3/ 2-1	male/ 1.5y	PBL	dn	46,XY,r(14)(p11.2q32.3) dynamic mosaicism: 46,XY,r(14)/45,XY,-14	GTG	DD, microcephaly, growth retardation, DYS, seizures	{414}
RC/W- 14- p11.2q32.3/ 2-2	female/ ~0.6y	PBL	dn	46,XX,r(14)(p11.2q32.3)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{430, case HSC27804}
RC/W- 14- p11.2q32.3/ 2-3	female/ ~1y	PBL	dn	46,XX,r(14)(p11.2q32.3)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{431}
RC/W- 14- p11.2q32.3/ 2-4	female/ ~0.75y	PBL	?dn	46,XX,r(14)(p11.2q32.3)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{452} literature not accessible
RC/W- 14- p11.2q32.31~q32.2/ 1-1	male/ 1y	PBL	dn	46,XY,r(14)(p11.2q32.31~q32.2) dynamic mosaicism: 46,XY,r(14)[84]/45,XY,-14[10]/ 46,XY,dic r(14)[6]	GTG	DD, microcephaly, growth retardation, DYS, seizures	{429}
RC/W- 14- p11.2q32.33/ 1-1	male/ ~0.8y	PBL	dn	46,XY,r(14)(p11.2q32.33) dynamic mosaicism with 45,XY,-14 reported in abstract but not in main content of paper	GTG	DD, microcephaly, growth retardation, DYS, seizures	{426, case 2}
RC/W- 14- p11.1q32/ 1-1	male/ 5y	PBL	?dn	46,XY,r(14)(p11.1q32)	GTG	DD, microcephaly, growth retardation, DYS	{561, case 2}
RC/W- 14- p11.1q32.3/ 1-1	female/ 11y	PBL	?dn	46,XX,r(14)(p11.1q32.3)	GTG	DD, microcephaly, growth retardation, DYS, seizures, macula pigmentation	{448}
RC/W- 14- p11q31/ 1-1	female/ 12.5y	PBL	?dn	46,XX,r(14)(p11q31) dynamic mosaicism: 46,XX,r(14)/46,XX,dr(14)/45,XX,-14	GTG	DD, microcephaly, growth retardation, DYS	{384} literature not accessible
RC/W- 14- p11q32/ 1-1	female/ ~2y	PBL	dn	46,XX,r(14)(p11q32) dynamic mosaicism: 46,XX,r(14)/46,XX,dr(14)/45,XX,-14	GTG	DD, microcephaly, growth retardation, DYS, seizures	{379}
RC/W- 14- p11q32/ 1-2	female/ 3.5y	PBL	dn	46,XX,r(14)(p11q32) dynamic mosaicism: 46,XX,r(14)/46,XX,dr(14)/45,XX,-14	GTG	DD, microcephaly, growth retardation, DYS, seizures	{385, case 2}
RC/W- 14- p11q32/ 1-3	female/ 2.5y	PBL	dn	46,XX,r(14)(p11q32) dynamic mosaicism: 46,XX,r(14)/46,XX,dr(14)/45,XX,-14	GTG	DD, microcephaly, growth retardation, DYS, seizures	{392}
RC/W- 14- p11q32/ 1-4	male/ 8y	PBL	dn	46,XY,r(14)(p11q32) dynamic mosaicism: 46,XY,r(14)[93]/45,XY,-14[7]	GTG	DD, seizures, retinal pigmentation	{404}
RC/W- 14- p11q32/ 1-5	male/ ~0.3y	PBL	?dn	46,XY,r(14)(p11q32) BACs in 14qter: loss of ~5Mb	GTG FISH	DD, microcephaly, growth retardation, DYS, seizures	{430, case HSC1412}
RC/W- 14- p11q32/ 1-6	male/ 9y	PBL	?dn	46,XY,r(14)(p11q32) dynamic mosaicism: 46,XY,r(14)[~91%]/ 46,XY,r(14)(var)[~5%]/ 45,XY,-14[~4%]	GTG	DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation, dispigmentation	{75, case 4}
RC/W- 14- p11q32/ 1-7	male/ 5y	PBL	?dn	46,XY,r(14)(p11q32) dynamic mosaicism: 46,XY,r(14)[27]/ 45,XY,-14[3]	GTG	DD, microcephaly, growth retardation, DYS, seizures	{446, case 2}
RC/W- 14- p11q32/ 1-8	male/ 3y	PBL	dn	46,XY,r(14)(p11q32)	GTG	DD, heart disease, seizures	{624, case 4 }
RC/W- 14- p11q32/ 1-9	female/ ~0.3y	PBL	?dn	46,XX,r(14)(p11q32)	GTG	DD, DYS, dispigmentation, seizures	{1206}
RC/W- 14- p11q32.11/ 1-1	male/ newborn	PBL	?dn	46,XY,r(14)(p11q32.11)	GTG	DD, microcephaly, growth retardation, DYS, seizures	{417, case 10}
RC/W- 14- p11q32.2/ 1-1	female/ prenatal	AF	dn	46,XX,r(14)(p11q32.2) dynamic mosaicism: 45,XX,-14[7]/46,XX,r(14)[7] acc. to FISH ~7Mb loss in 14q	GTG FISH	DD, microcephaly, growth retardation, DYS; TOP	{434}
RC/W- 14- p11q32.31/ 1-1	male/ 1y	PBL	?dn	46,XY,r(14)(p11q32.31) dynamic mosaicism: 45,XX,-14[17%] loss of 5Mb in 14q	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures	{438, case 15}
RC/W- 14- p11q32.31/ 1-2	female/ newborn	PBL	?dn	46,XX,r(14)(p11q32.31) dynamic mosaicism: 5% with ? 45,XY,-14 loss of 4.7Mb at 14qter	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures	{455}
RC/W- 14- p11q32.31/ 1-3	n.a./ n.a.	PBL	?dn	46,XN,r(14)(p11q32.31) loss of ~5Mb in 14qter	GTG FISH	DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation	{389, case 2} literature not accessible, studied also in {430 as case HSC1313}
RC/W- 14- p11q32.31~32.32/ 1-1 to 1-7	4 females and 3 males/ 1 to 28y	PBL	?dn	46,XN,r(14)(p11q32.31~32.32) dynamic mosaicism – specified in paper loss of >4Mb at 14qter	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures, in 1 case retinal pigmentation	{445, cases 3, 9, 15, 18 - these also in 453; and 445, cases 31, 33, 37; 1218}
RC/W- 14- p11q32.33/ 1-1	female/ 2y	PBL	?dn	46,XX,r(14)(p11q32.33) dynamic mosaicism: 45,XX,-14[21%] loss of 4.3Mb in 14q	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures	{438, case 9}
RC/W- 14- p11q32.33/ 1-2	female/ 5y	PBL	?dn	46,XX,r(14)(p11q32.33) dynamic mosaicism: 45,XX,-14[17%] loss of 3.8Mb in 14q	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures	{438, case 18}
RC/W- 14- p11q32.33/ 1-3	male/ 1y	PBL	?dn	46,XX,r(14)(p11q32.33) loss of 3.2Mb at 14qter	GTG aCGH	DD, microcephaly, growth retardation, DYS, seizures	{458}
RC/W- 14- p11q32.33/ 1-4 to 1-11	5 females and 3 males/ 1 to 18y	PBL	?dn	46,XN,r(14)(p11q32.33) dynamic mosaicism – specified in paper loss of 3Mb at 14qter	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures; in 2 cases retinal pigmentation	{445, cases 2, 4, 5, 13, 14, 16, 17 - these also in 453; and 445, case 36; 1218}
RC/W- 14- p1q32.33/ 1-12	male/ 8y	PBL	dn	46,XY,r(14)(p11q32.33) dynamic mosaicism: 46,XY,r(14)[93]/45,XY,-14[7] loss of 0.8Mb in 14q	GTG FISH	DD, microcephaly, growth retardation, DYS, seizures	{403; 410; 422; 423; 430, case HSC1282}
RC/W- 14- p11q32.33/ 1-13 to 1-20	3 male, 5 female/ 1y to 36y	PBL	?dn	46,XN,r(14)(p11q32.33) dynamic mosaicism: 45,XN,-14[17-21%] loss of <0.2 to 2.5Mb in 14q	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures	{438, cases 1, 4, 5, 6, 7, 10, 14, 16}
RC/W- 14- p11 q32.33/ 1-21 to 1-29	5 male, 4 female/ 2y to 23y	PBL	?dn	46,XN,r(14)(p11q32.33) dynamic mosaicism: 45,XN,-14[5-20%] loss of <0.2 to 3.4Mb in 14q	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation	{438, cases 2, 3, 8, 11, 12, 13, 17, 19, 20} { = 441}
RC/W- 14- p11q32.33/ 1-30	female/ 21y	PBL	?dn	46,XX,r(14)(p11q32.33) dynamic mosaicism loss of 1.7Mb at 14qter	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures, macula pigmentation	{439}
RC/W- 14- p11/ 1-31 to 1-41	4 females and 7 males/ 1 to 36y	PBL	?dn	46,XN,r(14)(p11q32.33) dynamic mosaicism: – specified in paper loss of <1Mb at 14qter	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures; in 5 cases retinal pigmentation	{445, cases 1, 3, 6, 7, 8, 10, 12, 19, 20; - these also in 453; and 445, cases 32, 34;1218}
RC/W- 14- p11q32.33/ 1-42	female/ 8.6y	PBL	?dn	46,XX,r(14)(p11q32.33) dynamic mosaicism: 46,XX,r(14)[28]/ 45,XX,-14[4] acc. to FISH subtel loss at 14qter	GTG FISH	DD, microcephaly, growth retardation, DYS, seizures	{446, case 1}
RC/W- 14- p11q32.33/ 1-43	female/ 10y	PBL	?dn	46,XX,r(14)(p11q32.33) acc. to FISH subtel loss at 14qter	GTG FISH	DD, microcephaly, growth retardation, DYS	{1226} literature not accessible
RC/W- 14- p11q32.33/ 2-1	male/ 3y	PBL	?dn	46,XY,r(14)(p11->q32.2::q32.2->q32.33) dynamic mosaicism: 19% with 45,XY,-14 loss of 3.2Mb at 14qter and gain of 1.3Mb in 14q32.2	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures, macula pigmentation	{445, case 11; also in 453; 1218}
RC/W- 14- p11q32.33/ 3-1	male/ 9y	PBL	?dn	46,XY,r(14)(p11->q32.12::q32.31->q32.32:) dynamic mosaicism: 28% with 45,XY,-14 loss of 4.4Mb at 14qter and gain of 9.7Mb in 14q32.12-q32.31	GTG FISH aCGH	DD, microcephaly, growth retardation, DYS, seizures	{445, case 33}
RC/W- 14- p11q32.33/ 4-1	male/ 16y	PBL	?dn	46,XY,der(16)(16pter->16qter:: 14q12->14qter), r(14;14)(p11->q12:: q12->p11)[38]/ 45,XY,der(16)(16pter->16qter: :14q12->14qter)[22]	GTG	Autism, DD	{435}
RC/W- 14- p11q32.33/ 5-1	male/ ~6y	PBL, fibros	dn	46,XY,r(14)(p11->q32.33::q32.33->q32.33) loss of ~0.8Mb at 14qter and gain of 1.7Mb in 14q32.32	GTG aCGH	DD, DYS, seizure	{625, case 14-1; 602}

Ref 387 - not clear if only review or case reported
see Ref 439 for comparison of r(14) and del(14)(qter) patients