ChromosOmics - Database





                                                  - CHROMOSOME  19 -                                                

Cases without
clinical findings
Cases with
clinical findings

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)

- theoretically to be expected: 
+ 19p13 microdeletion syndrome in case of terminal deletion (OMIM 613638)
+ 19q13 microdeletion syndrome in case of terminal deletion (OMIM 613026)

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-
19-
p13.?3q13.?4/
1-1

female/
12y

PBL

dn

46,XX,r(19)(p13.?3q13.?4)

dynamic mosaicism: 46,XX,r(19)[22]/46,XX[78]

GTG

normal

{1, case RC19-1; 778, 1 case}

RC/O-
19-
p13.?3q13.?4/
1-2

female/
adult

PBL

fibros

?dn

46,XX,r(19)(p13.?3q13.?4)

dynamic mosaicism:

46,XX,r(19)[~95]/
45,XX,-19[~5]

GTG

normal

{1, case RC19-6; 783}

RC/O-
19-
p13.?3q13.?4/
1-3

female/
27y

PBL

?dn

46,XX,r(19)(p13.?3q13.?4)

dynamic mosaicism:

46,XX,r(19)[4]/46,XX[96]

GTG

FISH

normal,

child with r(19): DD, microcephaly, autism

{1, case RC19-7; 784}

RC/O-
19-
p13.3q13.4/
1-1a and 1-1b

female/
~2y

PBL

mat
(r19) in 20% of PBL

46,XX,r(19)(p13.3q13.4)

acc. to aCGH no gain or loss

GTG

aCGH

normal with dispigmentation - mother normal

{1, case RC19-8; 775}
RC/O-
19-
p13.3q13.4/
1-2a and 1-2b

female/
37y

PBL

?dn

46,XX,r(19)(p13.3q13.4)

dynamic mosaicism:

46,XX,r(19)[4]/46,XX[96]

Subtelomer pter and qter present

GTG

FISH

normal,

child with r(19) in almost all cells

{787}

RC/O-
19-
p13.3q13.4/
1-3a and 1-3b

female/
adult

PBL

?dn

46,XX,r(19)(p13.3q13.4)

dynamic mosaicism:

46,XX,r(19)[15]/46,XX[85]

GTG

normal,

unborn child (no DYS in sonography or autopsy) with r(19) in almost all cells and TOP

{1455 - provided by Dr. I. Lurie, Maryland, USA}


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-
19-
p13.?3q13.?4/
1-1

male/
29y

PBL

?dn

46,XY,r(19)(p13.?3q13.?4)

dynamic mosaicism:

46,XY,r(19)[50]/46,XY[50]

GTG

DD, DYS

{1, case RC19-2; 779}
RC/W-
19-
p13.?3q13.?4/
1-2

male/
newborn

PBL fibros

?dn

46,XY,r(19)(p13.?3q13.?4)

dynamic mosaicism:

46,XY,r(19)[8]/46,XY[92]]

GTG

DD, microcephaly, DYS

{1, case RC19-3; 780}
RC/W-
19-
p13.?3q13.?4/
1-3

male/
3y

PBL

fibros

?dn

46,XY,r(19)(p13.?3q13.?4)

dynamic mosaicism:

blood 46,XY,r(19)[19]/ 46,XY[81]

no loss of r(19) in fibros

GTG

microcephaly, growth retardation, DYS

{1, case RC19-4; 781}
RC/W-
19-
p13.?3q13.?4/
1-4

female/
prenatal

AF

PBL

fibros

dn

46,XX,r(19)(p13.?3q13.?4)

dynamic mosaicism:

46,XX,r(19)[14]/46,XX[6]

GTG

growth retardation, DYS, TOP

{1, case RC19-5; 783}
RC/W-
19-
p13.?3q13.?4/
1-5

female/
prenatal

AF

?dn

 46,XX,r(19)(p13.?3q13.?4)

GTG
FISH

n.a.

{786, case 4}  

RC/W-
19-
p13.?3q13.?4/
1-6

male/
19y

PBL

?dn

 46,XY,r(19)(p13.?3q13.?4)

dynamic mosaicism:

46,XY,r(19)[94]/46,XY[6]

GTG

DD, seizures, autism, DYS

{1454 - provided by Dr. I. Lurie, Maryland, USA}

RC/W-
19-
p13.?3q13.?4/
1-7

female/
prenatal

AF

?dn

 46,XX,r(19)(p13.?3q13.?4)

dynamic mosaicism:

46,XX,r(19)/46,XX

GTG

clubfoot, TOP

{1457 - provided by Dr. I. Lurie, Maryland, USA}

RC/W-
19-
p13.3q13.4/
1-1

female/
postnatal

PBL

?dn

 46,XX,r(19)(p13.3q13.4)
 GTG
FISH
 		DYS, growth retardation {1288, 1 case; 1319, case 5 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
19-
p13.3q13.4/
1-2

female/
newborn

PBL

?dn

 46,XX,r(19)(p13.3q13.4)

dynamic mosaicism:

46,XX,r(19)[90]/ 46,XX,dr(19)[10]
acc. to aCGH no CNV detecable
 GTG
aCGH
 		Tetralogy of Fallot {1452, case 3 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
19-
p13.3q13.4/
1-3

female/
~2.3y

PBL

?dn

 46,XX,r(19)(p13.3q13.4)

dynamic mosaicism:

46,XX,r(19)[41]/ 46,XX,dr(19)[2]/45,XX,-19[4]/ 47,XXr(19)x2[2]/ 46,XX[1]
 GTG
 		DD, microcephaly, DYS
at age of ~2.5y Wilms tumor		 {1456 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
19-
p12q13.1/
1-1

n.a./
prenatal

AF

?dn

 46,XN,r(19)(p12q13.1)
acc. to aCGH loss in 19pter of ~24.2Mb and in 19qter of ~36Mb; also 3 microdel in chr. 7
 aCGH
 		DYS, growth retardation, TOP {1453 - provided by Dr. I. Lurie, Maryland, USA}