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ChromosOmics - Database

- CHROMOSOME 19 -

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)

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}

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}