TL

ChromosOmics - Database

- CHROMOSOME 3 -

most common clinical findings acc to Orphanet (variable clinical features)

- DD = developmental delay (including intellectual disability)
- growth retardation
- microcephaly
- DYS = dysmorphic facial features (incl. triangular face)
- also possible: dermatological features (= dispigmentation incl. café-au-lait spots), hypotonia

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- 03- p26q29/ 1-1	female/ 11.25y	PBL	?dn	46,XY,r(3)(p26->q29::q29->q29) acc. to aCGH in 3pter 2Mb lost and in 3qter ~1Mb duplicated	GTG aCGH	growth retardation, normal intelligence	{140 }
RC/O- 03- p26.2q29/ 1-1	female/ 18y	PBL	dn	46,XX,r(3)(p26.2q29) dynamic mosaicism	GTG	growth retardation, normal intelligence	{1, case RC3-8; 34}

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- 03- p2?q2?/ 1-1	female/ 2y	PBL	dn	46,XX,r(3)(p2?q2?),der(X)t(X;3)(p?;?) dynamic mosaicism	GTG	DD, microcephaly, growth retardation, DYS	{1, case RC3-1; 27}
RC/W- 03- p2?6q2?9/ 1-1	male/ postnatal	PBL	dn	46,XY,r(3)(p2?6q2?9) dynamic mosaicism	GTG	DD, microcephaly, growth retardation, DYS	{1, case RC3-2; 28}
RC/W- 03- p2?6q2?9/ 1-2	male/ 2y	PBL	dn	46,XY,r(3)(p2?6q2?9)	GTG	DD, microcephaly, growth retardation, DYS	{1, case RC3-3; 29}
RC/W- 03- p2?6q2?9/ 1-3	male/ 4m	PBL	dn parents consanguin	46,XY,r(3)(p2?6q2?9) dynamic mosaicism	GTG	DD, microcephaly, growth retardation, DYS also Cornelia de Lange syndrome	{1, case RC3-7; 33}
RC/W- 03- p26q29/ 1-1	male/ 3.5y	PBL	?dn	46,XY,r(3)(p26q29) dynamic mosaicism	GTG	DD, microcephaly, growth retardation, DYS	{1, case RC3-4; 30}
RC/W- 03- p26q29/ 1-2	female/ 10m	PBL	dn	46,XX,r(3)(p26q29) dynamic mosaicism: 46,XX,r(3)(p26q29)[223]/46,XX[10]/r-var[55]	GTG	DD, microcephaly, growth retardation, DYS	{1, case RC3-5; 31}
RC/W- 03- p26q29/ 1-3	male/ 46y	PBL	?dn	46,XY,r(3)(p26q29) dynamic mosaicism	GTG	DD, growth retardation, DYS	{1, case RC3-9; 35}
RC/W- 03- p26q29/ 1-4	female/ prenatal	amnion	dn	46,XX,r(3)(p26q29) dynamic mosaicism	GTG	DD, microcephaly, growth retardation, DYS	{1, case RC3-11; 37}
RC/W- 03- p26q29/ 1-5	male/ 4y	PBL	?dn	46,XY,r(3)(p26q29) dynamic mosaicism: 46,XY,r(3)(p26q29)[81]/45,XY,-3[10]/92,XXYY,r(3)(p26q29)[7]/92,XXYY,r(3;3)(p26q29;p26q29)[6]/46,XY,r(3;3)(p26q29;p26q29)[4]/47,XY,r(3)(p26q29)x2[1]/46,XY[4]	GTG FISH	mild DD, microcephaly, growth retardation, DYS	{425 }
RC/W- 03- p26q29/ 1-6	female/ 4y	PBL	?dn	46,XX,r(3)(p26q29) dynamic mosaicism: 46,XX,r(3)[86]/45,XY,-3[4]/46,XX,dr(3)[10]/47,XX,r(3)x2[14]	GTG FISH	mild DD, microcephaly, growth retardation, DYS	{558 }
RC/W- 03- p26.3q29/ 1-1	male/ newborn	PBL	?dn	46,XY,r(3)(p26.3q29) aCGH: loss of ~0.3Mb in 3pter	GTG aCGH	DD, growth retardation, DYS	{1198}
RC/W- 03- p26.1~25.3q29/ 1-1	female/ 5y	PBL	dn	46,XX,r(3)(p26.1~p25.3q29) dynamic mosaicism	GTG	DD, microcephaly, growth retardation, DYS	{1, case RC3-6; 32}
RC/W- 03- p26.1q29/ 1-1	male/ 16y	PBL	dn	46,XY,r(3)(p26.1q29) dynamic mosaicism: 46,XY,r(3)[262]/45,XY,-3[19]/46,XX,var(3)[19] acc. to aCGH ~6Mb lost	GTG FISH, MLPA aCGH	DD, microcephaly, growth retardation, DYS	{1, case RC3-12; 38, 78, case 1}
RC/W- 03- p25.3q29/ 1-1	female/ 1y	PBL	dn	46,XX,r(3)(p25.3q29) dynamic mosaicism: 46,XX,r(3)(p26q29)[90]/47,XX,+2r(3)[5]/46,XX,der(3)[5] acc. to aCGH in 3p ~10Mb lost	GTG aCGH	DD, microcephaly, growth retardation, DYS	{1, case RC3-13; 39; 141}
RC/W- 03- p23q29/ 1-1	male/ 11y	PBL	dn	46,XY,r(3)(p23q29),der(6)t(3;6)(p23;p25.3) dynamic mosaicism	GTG FISH	DD, growth retardation, DYS	{1, case RC3-10; 36}