Appendix Karyotype and phenotype of 216 disease associated balanced chromosome rearrangements (DBCR)

MIM No Phenotype Karyotype
(1) Disorders with proven candidate regions/genes (indicated in bold)
175700Greig cephalopolysyndactyly syndrome46,XY,t(3;7)(p21.1;p13)pat15
161200Nail-patella syndrome46,XY,t(1;9)(q41;q34)unknown28
190350Trichorhinophalangeal syndrome type I46,XX,t(7;13;8)(p21;q21;q24.1)de novo22
130650Beckwith-Wiedemann syndrome46,XX,t(2;11)(q14;p15.4)mat
130650Beckwith-Wiedemann syndrome46,XX,t(9;11)(p11.2;p15.4)mat10
176270Prader-Willi syndrome46,XY,t(9;15)(q21.2;q13.1)de novo23
176270Prader-Willi syndrome46,XX,t(15;18)(q13;q23)de novo
205900Blackfan-Diamond anaemia46,X,t(X;19)(p11;q11)de novo21
11010BPES46,XY,t(2;3)(q22;q24)de novo20
310200Duchenne muscular dystrophy46,X,t(X;9)(p21;q13)de novo16
310200Duchenne muscular dystrophy46,X,t(X;11)(p21;q23)de novo
(2) Disorders with suspected candidate regions/genes (indicated in bold)
163950Noonan syndrome46,XX,t(4;12)(q26;21.3)unknown
269200Smidt syndrome46,XX,t(6;14)(p22.3;q12)mat (concordant)
Aplasia of ulna46,XX,t(2;10)(q24.3;q23.3)de novo
Atypical cerebellar ataxia46,XX,t(8;20)(p22;q13)mat (concordant)
Polydactyly and syndactyli46,XX,inv(7)(p14.3p22)de novo
(3) Phenotypes considered not to be associated with the cytogenetic aberration
104050Williams syndrome46,XX,inv(8)(p12q23)unknown
201910Adrenogenital syndrome46,XX,t(13;18)(q31;p11.2)de novo14
312750Rett syndrome46,XX,inv(2)(p21q11)de novo (Nielsenet al, in preparation)
(4) Miscellaneous
122470Cornelia de Lange syndrome46,XX,inv(12)(p13q13)unknown
122470Cornelia de Lange syndrome46,XY,inv(12)(p11.23p13.33)mat
157900Moebius syndrome46,XY,t(7;8;11;13)(q21.1;q21.3;p14.3;q21.2)de novo35
248770Marfanoid syndrome46,XX,t(12;21)(q22;q22.1)de novo
261800Pierre Robin syndrome46,XY,t(7;17)(p11.1;q21)de novo
Radial aplasia46,XY,inv(3)(p22q27)de novo
119600Cleidocranial dysplasia46,XX,t(4;18)(q28;q23)de novo13
255310Congenital myopathy with fibre type disproportion46,XX,t(10;17)(p11.21;q25.1)mat19
206500Anencephaly46,XY(6;19)(p21;q12)pat
146450Hypospadias46,XY,t(1;16)(q12;q12)mat41 42
142340Diaphragmatic hernia46,XY,t(5;13)(p15;q14.1)pat
600057Extrophy of bladder46,XX,inv(5)(p11q12)pat
164750Omphalocele46,XY,t(17;22)()unknown
121000Congenital heart disease46,XY,inv(1)(q25q44)mat
121000Congenital heart disease46,XY,t,(2;13)(q22;q34)mat
121000Congenital heart disease46,XY,inv(10)(p11q21)pat
312865Short stature46,XX,t(1;11)(p36;q12)mat
312865Short stature46,XX,t(2;6)(p21;q21)de novo
312865Short stature46,XX,t(2;8;14)(q13;p21.2;q23.2)de novo
312865Short stature46,XX,inv(3)(p13q27)unknown
318265Short stature46,XX,t(6;17)(q14;q25)pat
318265Short stature46,XX,inv(9)(p24q13)pat
318265Short stature46,XX,inv(12)(q21.3q24.2)mat
218000Agenesia of corpus callosum46,XX,t(1;18)(p32.1;q12.2)de novo
218000Agenesia of corpus callosum46,XY,inv(3)(p12q13.3)mat
218000Agenesia of corpus callosum46,XX,dir ins(22;15)(q12;q15q22)de novo
182940Neural tube defect46,XY,t(2;3)(q37;q13.3)de novo
119540Cleft palate46,XY,t(2;12)(p13;q13.1)de novo
Cleft palate and glaucoma46,XY,t(1;6)(q21.2;q25.2)de novo12
XY sex reversal46,XY,t(11;18)(p15.2;q21.1)de novo
Short limbs46,XX,inv(12)(p11.23q14.3)pat
Syndactyly46,XX,t(7;19)(p11;q12)unknown
Ambiguous genitalia46,XX,t(5;13)(p13;q14)unknown
Kyphoscoliosis, vertebral anomalies, ureteric stenosis46,XY,t(3;7)(p23;q11)mat
(5) Eye disorders
 Retinal cone dystrophy, +46,XY,t(1;6)(q44;q27.2)de novo17
Coloboma of iridis, +46,XY,inv(5)(p13p15)mat18
Microphthalmia, coloboma +46,XX,t(10;16)(p11;q21)de novo
Coloboma of iridis, microphthalmia sin46,XX,inv(11)(q21q23)pat
(6) Malignancies
 Leukaemia46,XY,t(2;11)(q21;p15)unknown
46,X,inv(Y)(p1q1)unknown
Cancer of the larynx46,XY,t(2;7)(p21;q22)unknown
Histiocytoma in colon46,XY,inv(2)(p11q13)pat
Myeloid leukaemia46,XX,inv(10)(q11q24)unknown
(7) Obesity
 46,XX,t(1;13)(q11;p12)de novo
46,XY,t(5;8)(q22;q11)unknown
(8) Muscular disorder
 46,XX,inv(10)(p11.1q21.1)pat
(9) Behavioural disorder
 Psychosis46,XX,t(9;18)(p13.3;q12.3)mat
Behavioural problems46,XY,t(4;10)(q25;q24)pat
Behavioural problems, alcoholism, arsonism46,XY,t(1;18)(p21;p11)unknown
Schizophrenia46,XY,t(10;17)(p14;p13)unknown
Psychosis, autism, +46,XY,t(7;12)(q21.4;q15)de novo
(10) Autism
 46,XX,t(5;18)(q34;q12)de novo
46,XX,t(9;18)(p22;q21)pat,inv(10)(p11q21)mat
46,XY,t(14;16)(q32.2;q22)de novo
(11) Others
 Haemolytic uraemic syndrome46,XX,inv(Y)(p11q11)pat
(12) Male infertility
Cases with cytogenetically matching breakpoints
1q21 46,XY,t(1;21)(q21;p11)unknown
46,XY,inv(1)(q21.2q42)unknown
46,XY,ins(1;9)(q21q42;q13)unknown
46,X,t(Y;1)(q12;q21.2)de novo
2q21 46,XY,t(2;21)(q21;p11)unknown
46,XY,t(2;6)(q21;q25)mat
Cases without cytogenetically matching breakpoints
 46,XY,t(1;8)(p32;q11)unknown
46,XY,t(2;5)(p21;q12.2)de novo
46,XY,t(2;19)(p11.2;p13.3)unknown
46,XY,t(3;15)(q11;p12)unknown
46,XY,inv(5)(p15.2p13)unknown
46,XY,inv(6)(p21.1q13)mat
46,XY,t(7;22)(p10;p10)unknown
46,XY,t(9;19)(q22;q12)unknown
46,XY,t(9;22)(p24;q12)unknown
46,XY,inv(12)(p12q13)unknown
46,XY,t(12;15)(q24;24)unknown
46,XY,t(13;20)(q11;q13)unknown
46,XY,t(4;21)(q34;q11.1)unknown
(13) Female infertility
Cases with breakpoints within the critical region Xq13-q26
 46,X,t(X;2)(q21;q22)de novo
46,X,t(X;5)(q22;p15.2)unknown
46,X,t(X;5)(q22;p14)de novo
46,X,t(X;9(q21.4;q21)unknown
46,X,t(X;10)(q22;q24)unknown
46,X,t(X;16)(q22.1;p11.2)unknown
46,X,t(X;12)(q23;p13)unknown
46,X,t(X;13)(q21;p11)de novo
Cases with autosomal breakpoints only
 46,XX,inv(1)(p23q21)de novo
46,XX,t(1;11)(q44;p13)unknown
46,XX,t(3;20)(q25;q13)mat
46,XX,t(4;11)(q31;q24)mat
46,XX,inv(5)(p13q13)pat
46,XX,t(5;7)(q22;q119unknown
46,XX,t(7;10)p21;q21)unknown
(14) Mental retardation with or without multiple congenital malformations
Cases with cytogenetically matching breakpoints
1q31 46, XX,t(1;4)(q31;q21),t(2;13)(p14.1;q33)de novo
46,XY,t(1;16)(q31;q13)pat
1q44 46,XX,t(1;19)(q44;q13.2)pat
46,XY,t(1;4)(q44;q22)de novo38 *
46,XY,t(1;22)(q44;q11.9)unknown
46,XX,t(1;2)(p36;q23)unknown40
2q23 46,XX,t(2;5)(q23.1;p13.1)pat
46,XY,inv(2)(p23q23.1)de novo
46,XY,t(2;4)(q23;q35)mat†
46,XX,t(2;16)(q23.2;22.1)de novo
46,XX,inv ins(2)(p23q37q23)de novo
4p16 46,XY,inv(4)(p16q11)pat
46,XX,inv(4)(p16q21.1)mat,inv(4)(p15.1q13)pat
4q22 46,XX,t(4;9)(q22;p24)pat38
46,XY,t(1;4)(q44;q22)de novo38 *
4q35 46,XY,t(2;4)(q23;q35)mat†
46,XX,t(4;5)(q35;p12)de novo39
5q13 46,XX,t(5;7)(q13;p13)unknown
46,XX,t(5;9)(q13;q22)pat
46,XY,t(5;8)(q13;q11)de novo
46,XY,t(5;15)(q13;q25)mat42
6q27 46,XX,inv(6)(p12q27)mat
46,XX,t(6;13)(q27;q14)unknown
7q22 46,XX,t(2;7)(q31;q22)pat
46,XX,t(6;7)(p25;q22)mat
46,XX,t(7;13)(q22;q34)de novo‡
7q36 46,XX,t(1;7)(p35;q36)unknown40
46,XX,t(1;7)(p22;q36)inv(9)mat
9p24 46,XX,inv(9)(p13p24)unknown
46,XX,t(9;12)(p24;q21.2)de novo
9q34 46,XY,t(9;12)(q34;q13)de novo
46,XY,t(9;17)(q34.1;q25.3)de novo
12q15 46,XY,t(2;12)(p15;q15)de novo
46,XY,t(7;12)(q11;q15)mat
46,XX,inv(12)p13q15)mat
13q34 46,XXt(7;13)(q22;q34)de novo‡
46,XX,t(2;13)(p24;q34)mat
14q32 46,XX,t(12,13;14;20)(p11;q14;q32;p13),dir ins (9;12)(q21;p?)de novo
46,XY,t(14;18)(q32.33;q21.31)de novo
*, †, and ‡: same cases with two different matching breakpoints
Cases without cytogenetically matching breakpoints
 46,XY,inv(1)(p13q12)mat
46,XX,inv(1)(p21q41),inv(5)(q13q34)de novo
46,XY,t(1;3)(p22;q27)pat
46,XY,t(1;7)(p32;p11)unknown
46,XX,t(1;11)(p13;p11)de novo39
46,XY,t(1;15)(q12;q11)de novo
46,XY,t(1;16)(q12;p13)unknown40
46,XY,inv(2)(p11q14)pat
46,XY,t(2;3)(q31.2;q11.1)unknown
46,XY,t(2;3;7)(q14;q25;q34)unknown
46,XX,t(2;4;6;9;10)(p12;q12;q23;q12;pter)unknown
46,XX,t(2;5)(q22.3;q33.1)de novo
46,XY,t(2;6)(p23;q15)unknown
46,XX,t(2;9)(p23;q22)de novo
46,XY,t(2;10)(q14.3;p12.3)de novo
46,XY,t(2;12)(p23;q24.1)unknown
46,XY,t(2;20)(q11;p11)de novo
46,XY,t(2;22)(q11.2;q11.2)de novo
46,XY,t(2;22)(q13;q11.1)de novo
46,XX,t(3;4)(q24;q31.3)unknown
46,XY,t(3;6)(p14;p22)de novo
46,XX,t(3;7)(q21;p14)de novo
46,XY,t(3;19)(p25;q13)de novo
46,XY,t(4;7)(q34;q31)unknown40
46,XX,t(4;7;14)(q13;q23;q24)unknown
46,XY,t(4;14)(q12;q24.1)de novo
46,XY,t(4;16)(q24;p13.2)unknown
46,XX,t(4;17)(q21;q23)de novo
46,XX,t(4;20)(q;p)de novo
46,XX,t(4;22)(q31.3;q12.2)de novo
46,XY,inv(5)(p13p15),inv(9)unknown39
46,XX,t(5;12)(q13;13)unknown
46,XY,t(5;14)(q11;p12)de novo
46,XX,t(5;20)(q12;p11)mat
46,XY,t(5;16)(q14.1;p11.2)de novo
46,XY,inv(6)(p22q21)pat
46,XY,inv(6)(p24q23)mat
46,XX,t(6;8),dir ins(11;12)(p15.1;q13q21.3)de novo
46,XY,t(6;13)(p21.2;q33.3)de novo
46,XX,t(6;14)(q13;q32)pat41
46,XY,t(6;22)(p22;q12)de novo
46,XY,t(7;12)(q11;q13)mat
46,XY,t(7;12)(q21.4;q15)de novo
46,XX,t(7;13)(q21;q21)de novo
46,XY,t(7;19)(q11.21;p13.1)de novo
46,XX,t(7;22)(p15;q12)mat
46,XX,inv(8)(p22q22)unknown
46,XY,t(8;19)(q24;q12)unknown
46,XX,t(9;10)(p12;q11.2)de novo
46,XY,t(9;12)(p21;q24)de novo
46,XX,inv(10)(p11q21)mat
46,XX,inv(10)(p13q22)mat
46,XY,t(10;12)(p15;p11)de novo
46,XY,t(10;13)(q24;p11)unknown
46,XX,t(10;15)(q22;q24)de novo
46,XY,t(10;16)(q21;q11)de novo
46,XX,t(10;18)(q11;q12)de novo
46,XY,t(11;14)(q25;q24.3)de novo
46,XX,inv(12)pat
46,XY,inv(12)(p13q13)pat
46,XY,t(12;14)(q14;q13)de novo
46,XX,inv ins (15;5)(q15;p15.2p14.1)de novo
46,XY,t(15;18)(p13;q11)unknown
46,XY,t(16;17)(p11;q21)mat
46,XX,inv(20)(p11q12)pat
46,X,t(X;1)(q28;p25)unknown
46,X,t(X;4;13)(p11.1;q12;q22.2)unknown
46,X,t(X;7)(q22;p22)unknown
46,X,t(X;10)(p11;q26)unknown
46,X,t(X;15)(p22;q11)unknown
46,X,t(X;17)(p11.2;p13.2)de novo
46,X,inv(Y)de novo