TL

ChromosOmics - Database

- CHROMOSOME 2 -

most common clinical findings acc to Orphanet (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), hypotonia, micrognathia

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- 02- p/ 1-1	-	-	-	-		-	-	{}

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- 02- p2?5q3?7/ 1-1	male/ 0.5y	PBL	dn	46,XY,r(2)(p2?5q3?7)	solid staining	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-1; 13; 14, case 3}
RC/W- 02- p25q37/ 1-1	female/ newborn	PBL	?dn	46,XX,r(2)(p25q37) dynamic mosaicism 14-50%	GTG	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-2; 15}
RC/W- 02- p25q37/ 1-2	male/ 1.25y	PBL	dn	46,XY,r(2)(p25q37) dynamic mosaicism	GTG	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-3; 14, case 1}
RC/W- 02- p25q37/ 1-3	female/ infant	PBL	dn	46,XX,r(2)(p25q37) dynamic mosaicism 16%: 46,XX,r(2)[311]/46,XX[64]/r-var[4]	GTG	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-5; 16}
RC/W- 02- p25q37/ 1-4	female/ 4y	PBL	dn	46,XX,r(2)(p25q37) dynamic mosaicism singles cells	GTG	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-7; 19}
RC/W- 02- p25q37/ 1-5	female/ newborn	PBL	dn	46,XX,r(2)(p25q37) dynamic mosaicism:46,XY,r(2)(p25q37.3)[65]/45,XY,-2[27]/46,XY[2]	GTG	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-8; 20}
RC/W- 02- p25q37/ 1-6	female/ 4y	PBL	dn	46,XX,r(2)(p25q37)	GTG	DD, growth retardation, DYS	{1189} {1245 - provided by Dr. I. Lurie, Maryland, USA}
RC/W- 02- p25q37/ 1-7	female/ 5y	PBL	?dn	46,XX,r(2)(p25q37)	GTG	DD, microcephaly, growth retardation, DYS, dispigmentation	{1246 - provided by Dr. I. Lurie, Maryland, USA}
RC/W- 02- p25q37/ 1-8	male/ ~1y	PBL	dn	46,XY,r(2)(p25q37)	GTG	growth retardation, DYS, microcephaly, hernia, cryptorchism	{1247 - provided by Dr. I. Lurie, Maryland, USA}
RC/W- 02- p25q37/ 1-9	female/ ~2y	PBL	?dn	46,XX,r(2)(p25q37)	GTG	DD, growth retardation, DYS, hypotonia	{1249 - provided by Dr. I. Lurie, Maryland, USA}
RC/W- 02- p25.3q37.1/ 1-1	male/ ~1y	PBL	dn	46,XY,r(2)(p25.3q37.1) acc. to aCGH 0.65Mb loss 2qter	GTG FISH	DD, growth retardation, DYS, hypotonia, dispigmentation	{1243 - provided by Dr. I. Lurie, Maryland, USA}
RC/W- 02- p25.3q37.3/ 1-1	female/ ~1y	PBL	dn	46,XX,r(2)(p25.3q37.3) Subtelomer 2pter and 2qter present	GTG FISH	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-10; 22}
RC/W- 02- p25.3q37.3/ 1-2	male/ prenatal	PBL	?dn	46,XY,r(2)(p25.3q37.3) dynamic mosaicism: 46,XY,r(2)[13]/45,XY,-2[4]/47,XY,r(2)x2[2]/46,XY,dr(2;2)[1] Subtelomer 2pter and 2qter present	GTG FISH	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-11; 23}
RC/W- 02- p25.3q37.3/ 1-3	female/ postnatal	PBL fibros	?dn	46,XX,r(2)(p25.3q37.3) dynamic mosaicism: 46,XX,r(2)[17~25]/46,XX[75~83]	GTG	microcephaly, growth retardation, DYS, dispigmentation	{1250 - provided by Dr. I. Lurie, Maryland, USA}
RC/W- 02- p25.3q37.3/ 2-1	male/ ~1y	PBL	dn	46,XX,r(2)(p25.3q37.3) dynamic mosaicism: 46,XY,r(2)[17]/47,XY,r(2)x2[3]/46,XY[1] Subtelomer 2pter and 2qter present acc. to aCGH 0.14Mb loss at 2p and 0.15 Kb at 2q	GTG FISH aCGH	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-13; 25}
RC/W- 02- p25.3q37.3/ 2-2	male/ prenatal	AF	dn	46,XY,r(2)(p25.3q37.3) Subtelomer 2pter and 2qter are lost break in 2p25.3: 3.3Mbp and 2q37.3 -4.4Mb (hg19)	GTG FISH aCGH	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-12; 24}
RC/W- 02- p25.3q37.3/ 2-3	male/ newborn	PBL	dn	46,XY,r(2)(p25.3q37.3) dynamic mosaicism: 46,XY,r(2)[92]/r-var[8] loss in 2p25.3: 439Kb and 2q37.3 -3.4Mb (hg19)	GTG aCGH	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-14; 26}
RC/W- 02- p25.3q37.3/ 2-4	female/ 0.5y	PBL	dn	46,XX,r(2)(p25.3q37.3) Subtelomer 2pter and 2qter are lost	GTG FISH	DD, growth retardation, DYS, dispigmentation	{1251 - provided by Dr. I. Lurie, Maryland, USA}
RC/W- 02- p25.3q37.3/ 3-1	female/ 0.5y	PBL	dn	46,XX,r(2)(p25.3q37.3) dynamic mosaicism: 46,XX,r(2)(p25q37)[79]/45,XX,-2[4]/r-var[17] Subtelomer 2pter is lost; subtelomere 2qter present	GTG FISH	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-9; 21}
RC/W- 02- p25.3q37.3/ 3-2	male/ prenatal	AF	dn	46,XX,r(2)(p25.3q37.3) dynamic mosaicism: 45,XY,-2[5]/46,XY,r(2)(p25q37)[55]. acc. to aCGH 1.623Mb loss at 2pter	GTG aCGH	DD, microcephaly, micrognathia, growth retardation, DYS	{138 }
RC/W- 02- p25.3q37.3/ 3-3	male/ 0.3y	AF	?dn	46,XY,r(2)(p25.3q37.3) acc. to aCGH ~1.6Mb loss at 2pter	GTG NGS/ CMA	growth retardation, VSD	{894 }
RC/W- 02- p25.3q37.3/ 4-1	female/ 1.5y	PBL	dn	46,XX,r(2)(p25.3q37.3) dynamic mosaicism: 46,XX,r(2)(p25q37)196]/r-var[29] acc. to aCGH ~2Mb loss at 2qter	GTG aCGH	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-6; 17; 18}
RC/W- 02- p25.3q37.3/ 4-2	male/ ~0.5y	PBL	dn	46,XY,r(2)(p25.3q37.3) acc. to FISH subtel 2pter present and 2qter absent	GTG FISH	microcephaly	{1244 - provided by Dr. I. Lurie, Maryland, USA} case 53
RC/W- 02- p25.3q37.3/ 4-3	n.a./ prenatal	AF	?dn	46,XN,r(2)(p25.3q37.?2) dynamic mosaicism: 46,XN/46,XN,r(2) acc. to FISH subtel 2pter present and 2qter absent	GTG FISH	growth retardation, DYS	{1248 - provided by Dr. I. Lurie, Maryland, USA}
RC/W- 02- p25.3q37.3/ 5-1	female/ 10m	PBL	pat: 46,XY,t(2;6)(p15;q15)	46,XX,r(2;6) dynamic mosaicism genomic imbalance reported	GTG	DD, microcephaly, micrognathia, growth retardation, DYS	{1, case RC2-4; 14, case 2}
RC/W- 02- p25.2q37.2/ 1-1	male/ 1y	PBL	dn	46,XY,r(2)(p25.2q33.2) dynamic mosaicism: 46,XY,r(2)[~30%]/46,XY,der(2)(qter->q33.2::p25.2->qter)[~70%]	GTG	DD, growth retardation, DYS	{580 }