The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- Translocation

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 10572083_59 46, X, idic(Y)(q?)c, der(18)t(11;18)(q13;p11)/ 46, idem, del(3)(p13), add(4)(p14), add(6)(p23), add(7)(p36), del(13)(q12q14), t(18;19)(q11;q13) acute myeloid leukemia p36*       10572083 59 *7p36 does not exist (q36?); Mitelman Database, Reference No. 8407 Edit
2 NIGMS_GM06097 46, XX, der(17)t(7;17)(p22.3;p13.2). ish der(17)(D17S379-, RARA+) Miller-Dieker Lissencephaly Syndrome (MDLS; 17p13.3): typical facies (bitemporal hollowing, thin downturned upper lip, micrograthia; micocephaly, high arched palate), ventricular septal defect p22.3       GM06097 trisomy of 7p22.3-pter; fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
3 11005146_2 45, XY, psu dic(22;7)(p13;p22.3)del(7)(p11.2p15.1) de novo craniosynostosis, microcephaly, scaphocephaly, bilateral cataracts, dysmorphic facies (frontal bossing, epicanthal folds, prominent ears, broad short nose with a low nasal bridge, micrognathia, retrognathia), bilateral syndactyly of the 2nd and 3rd toes, board adducted thumbs, deep palmar creases, developmental delay, hypospadias, curvature of the penis, hypotonia p22.3       11005146, 12548740 case 22 [12548740]   Edit
4 12362030_2 46, XX, der(7)t(7;16)(p22.3;p13.3) pat mental retardation, cleft palate, brain anomalies, pachygyria, optic nerve hypoplasia, genitourinary abnormalities, vesicoureteral reflux, hydronephrosis, dysmorphic features, ear abnormalities, micrognathia, 2-3 toe syndactyly p22.3       12362030, 15834244 case 2 [12362030], patient 12 [15834244] monosomy of 7p22.3-pter Edit
5 15039973_DD8903322 46, XX, t(2;7)(p23.3;p22.3) de novo phenotype not given; prenatal diagnosis was done p22.3       15039973 DD8903322   Edit
6 6745939_4 46, XX, der(17)t(7;17)(p22.3;p13.2) pat aborted fetus; mild micrognathia, prominent philtrum, bilateral 5th finger clinodactyly, sacral crease, cystic dysplasia in the left kidney [autopsy] p22.3       6745939 case 4 (C-83-99) sibling of 6834189_3; trisomy of 7p22.3-pter Edit
7 6834189_3 46, XX, der(17)t(7;17)(p22.3;p13.2) pat Miller-Dieker syndrome p22.3       6834189, 6745939 case 3 [6745939, 6834189] sibling of 6745939_4; trisomy of 7p22.3-pter Edit
8 19375526 45,X,der(7)t(Y;7)(p11.1w11.2;p22.3)[122]/4 5,X[48]de novo Turner syndrome, mild growth retardation, systolicmurmur, patentductus arteriosus, bicuspid aortic valve, short stature, short neck with low posterior hairline, epicanthus, non-constant concomitantstrabismus of right eye, long thin straighteyebrows, long eyelashes, prominent chin and prognatism, vaginal and clitoral hypertrophy, abnormal ovaries, displaced uterus p22.3       19375526   right eye strabismus present in father; maternally derived X-chromosome Edit
9 12457405 46, XX, der(7)t(7;16)(p22.3;q24.1) de novo [detected by FISH & CGH] psychomotor and mental retardation, high forehead with bitemporal narrowing, broad nasal bridge, broadened nose, downslanting palpebral fissures, abnormal ears, vertebral abnormalities, cardiac defect, genital hypoplasia, anal abnormalities p22.2 - 22.1   D7S531/ D7S517   12457405   monosoy of 7p22.3-pter (by FISH); molecular cytogenetic data is not consistent with karyotype Edit
10 Unpublished_HH303 4?, X?, t(7;10)(p22;p11.2) phenotype not given p22.2   D7S2649/ D7S544E   HH303 patient cells: ecacc.org.uk; somatic cell hybrid HH303 RJK 3: www.uni-marburg.de/h umgen; data unpublished Edit
11 3839444_1 46, XX, der(7)t(3;7)(p24.3;p22.1) mat psychomotor developmental delay, especially language delay, facial dysmorphism, asymmetric skull with a prominent right frontal boss, flattened face and broad neck, antimongoloid slant of eyes, esotropia, short nose with flattened base and small pit at the top of the philtrum, microstomia, thick lips, high arched palate, retroverted ears with excess folds, epileptic signs p22.1       3839444 case 1 monosomy of 7p22.1-pter Edit
12 8163277 46, XX, t(1;3)(p22;q21), t(7;12)(p22;q13) [20] hemangiopericytoma of the tongue p22.1   ACTB   8163277, 15111311, 15555571 5 [15111311, 15555571] ACTB-GLI fusion gene; ACTB intron 3 fuses to GLI intron 5, separated by ~170 bp inverted duplication of ACTB including part of exon 3 and intron 3; Mitelman Database, Reference No. 5488 & 10573 Edit
13 ECACC_91071217 46, XX, t(2;7)(p23.1;p22.1) de novo phenotype not given p22.1       91071217 (cell line: DD0348) www.ecacc.org.uk; data unpublished Edit
14 15111311_1 45, XY, t(7;12)(p22;q13), inv(10)(p11q21)c, der(15;16)(q10;p10) [25] hemangiopericytoma of the calf p22.1   ACTB   15111311, 15555571 1 ACTB-GLI fusion gene; first nucleotide of ACTB exon 3 fuses to GLI exon 7, accompanied by ~650bp deletion including almost entire exon 3; Mitelman Database, Reference No. 10573 Edit
15 15111311_2 46, XX, t(7;12)(p22;q13) [20] hemangiopericytoma of the calf p22.1   ACTB   15111311, 15555571 2 ACTB-GLI fusion gene; ACTB intron 1 fuses to GLI intron 5; translocation resulted in loss of ACTB exon 2-6; Mitelman Database, Reference No. 10573 Edit
16 15111311_3 45, XY, der(1)t(1;?7)(p36;p?22), add(2)(p25), add(5)(p15), add(6)(p?21.3), der(7)t(7;12)(p21;q?15), -12 [19] hemangiopericytoma of the tongue p22.1   ACTB   15111311, 15555571 3 ACTB-GLI fusion gene; ACTB intron 3 fuses to GLI intron 6; translocation resulted in loss of ACTB exon 4-6; Mitelman Database, Reference No. 10573 Edit
17 15111311_4 46, XX, t(7;12)(?p22;?q15) [17] hemangiopericytoma of the stomach p22.1   ACTB   15111311, 15555571 4 ACTB-GLI fusion gene; ACTB intron 2 fuses to GLI intron 5; translocation resulted in loss of ACTB exon 3-6; Mitelman Database, Reference No. 10573 Edit
18 15200505_15 46, XY, der(7)t(7;17)(p22.1;q25.1) pat severe mental retardation, pre- & postnatal developmental delay, micro-brachycephaly, synophrys, long eyelashes, epicanthic fold, flat nasal bridge, bulbous nose, anteverted nostrils, long philtrum, prominent upper lip, high-arched palate, micrognathia, low set dysmorphic ears, postaxial polydactyly of left hand and foot, hypertrichosis, cryptorchidism p22.1   RP11-89J1/ RP11-425P5   15200505 patient 15 monosomy of 7p22.1-pter; breakpoint at 7q lies at about 5.5 Mb from the telomere; father had balanced t(7;17) Edit
19 16357831 46, XY, t(4;6)(q24;p11), del(5)(q15), t(11;18)(q23;q21) [24] [cryptic t(7;21)(p22;q22) was detected by FISH] acute myeloblastic leukemia - M0 p22.1   USP42   16357831   RUNX1/USP42 fusion detected; breakpoint at 7p22 lies in intron 7 of USP42; fusion gene Mitelman Database Reference No. 11379 Edit
20 18475318 46,XY,t(7;16)(p22;p11)de novo autism, psychomotor retardation, frequent crying, sleep disturbances, brain CT scan revealed cerebellar megacysterna in posterior fossa and temporal arachnoidal cyst p22.1   RP11-730B22   18475318     Edit
21 20414355; 18475318 46,XY,t(7;16)(p22;p11.2)de novo autism, psychomotor retardation, frequent crying, sleep disturbances, brain CT scan revealed cerebellar megacysterna in posterior fossa and temporal arachnoidal cyst p22.1   RP11-152I5 RP11-730B22 20414355; 18475318   discussion of Q6NUR6 (RNF216L) as candidate gene Edit
22 7206305_1 46, XX, t(4;7)(q31;p22)del(7)(q32) de novo microcephaly, hypertelorism, exophthalmus, divergent strabismus, blue sclera, micrognathia, irregular alveolar ridge, systolic heart murmurs (VSD, PDA), sacral dimple, cutis marmorata p22       7206305, 6758992, 3354600, 8135290 case 23 [6758992]   Edit
23 624544_mother 46, XX, t(7;12)(p22;p11) mat phenotypically normal except relatively short 3rd and 4th fingers on the right hand and short 4th and 5th fingers on the lefthand, broad outgrowth of the medial phalangeal part of the metatarsophalangeal joints (teardrop-deformity) p22       624544 mother, lll-4 her mother (grandmother, II-3) had same translocation and balanced t(2;6); mother of 624544_IV-3 Edit
24 624544_sibling 46, XX, t(7;12)(p22;p11) mat phenotypically normal p22       624544 sibling, IV-2 sibling of 624544_IV-3 Edit
25 624544_aunt 46, XX, t(2;6)(q35;q23), t(7;12)(p22;p11) mat phenotypically normal except relatively short 3rd and 4th fingers on the right hand and short 4th and 5th fingers on the lefthand; multiple spontaneous abortions p22       624544 aunt, lll-2 her mother (grandmother, II-3) had same double translocations; aunt of 624544_IV-3 Edit
26 837945 45, XX, der(7)t(7;13)(p22;q12.1), -13 de novo mental retardation; hemihypertrophyleft side; developmental delay; fibroblast culture from right arm skin biopsy p22       837945, 7521123 GM01840 [837945], case 13 [7521123] monosomy of 7p22-pter; fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
27 2225528_7 46, XX, der(7)t(7;11)(p22;q14) patent ductus arteriosus, atrial septal defect p22       2225528 case 7 (BWIS#2231) monosomy of 7p22-pter Edit
28 8266989_mother 46, XY, t(2;7)(p23;p22) brachycephalic, a low anterior hairline, flat face, mild ptosis of the eyelids, small ears with overfolding of the upper helix of the left ear, highly arched palate, and minimal soft tissue syndactyly of the second and third fingers p22       8266989 mother   Edit
29 9660064 46, XX, der(8)t(8;15)(q24.3;q24), der(15)t(7;15)(p22;q24) de novo macrocephaly, seizures, mild dysmorphic feautres, developmental delay, hyperpigmentation, café-au-lait spots p22       9660064, 10494083 case 47 [10494083] trisomy of 7p22-pter Edit
30 11746010 46, XX or XY, der(7)t(4;7)(q28;p22) mat or pat mental and developmental retardation, brachycephaly & small head, hypotonia, restricted speech, seizures, dysmorphic features, high arched palate, cryptorchidism (males only) p22       11746010 proband (IV-19), brother of proband (IV-20), cousin of proband (IV-18) monosomry of 7p22-pter; mother of IV-19 & 20 and father of IV-18 had balanced t(4;7) Edit
31 Unpublished_37 46, XY, t(7;9)(p22;q34) speech problems p22       37 several affected family members; data unpublished Edit
32 123836 47, XX, t(7;11;21)(p21-22;q13;q21), +21 [fragment of 7p22-pter was not recognizable] Down's syndrome p22 - 21       123836 two siblings mother and phenotypically healthy sibling had same translocation Edit
33 11417483_23 46, XY, -3, del(5)(q14q35), -7, add(7)(p22), der(11)t(3;11)(p12;p14), +2mar [30]/ 46, XY [1] myelodysplastic syndrome p22       11417483 23   Edit
34 10360374_10_1 46, XY, del(9)(p23) [25]/ 46, XY, -5, -7, der(7)t(7;?)(p22;?)del(7)(q31.3), +mar [19] adult acute lymphocytic leukemia p22       10360374 10 Mitelman Database, Reference No. 8064 Edit
35 11595023_5 46, XX, der(7)t(7;16)(p22;q24) de novo dolichocephaly, hypertelorism, micrognathia, vertebral anomalies, brain stem dysfunction, anteriorly placed anus p22       11595023 proband (II-2), family 5 monosomy of 7p22-pter Edit
36 123589_4_older 47, XY, +der(21)t(7;21)(p22;q22) mat [16]/ 46, XY [112] mental retardation, hyperkinetic behaviour, small ears p22       123589, 2363431, 10494083 case 4 (III-1, older sib) [123589], case 45 [10494083] trisomy of 7p22-pter; sibling of 123589_4_younger; mother and sister carried balanced t(7;21) Edit
37 10466423 46, X, rea(Y;1;6;7)(Ypter-> Yq12::7p22-> 7pter; 1pter-> 1p36.1::1p32-> 1qter; 6pter-> 6q21; 7qter->7p22::1p32-> 1p34::6q21-> 6q23::1p34-> 1p36.1::6q23-> 6qter), inv(15)(q13q26.1) de novo. ish rea(Y;1;6;7)(cy2.1-, 109A+; wcp1+, D1Z2+; wcp6+, D6S152-, 2158e3-; wcp7+, 109A6-, wcp1, wcp6+, D6S152+, wcp1+, wcp6+, 215823+), inv(15)(wcp15+, SNRPN st, PML mv) [characterized by FISH] microcephaly, hyperactive, abnormal fingers, stiff joints, speech delay p22       10466423 FB   Edit
38 12119211 46, XX, der(7)t(4;7)(q27;p22) pat severe mental retardation, growth retardation, hearing impairment, minor foot, thumb and facial anomalies p22       12119211   monosomy 7p22-pter; phenotype from trisomy 4q syndrome Edit
39 624544_proband 46, XY, der(7)t(7;12)(p22;p11) mat mental and motor retardation, hypotonia, high prominent forehead, flat occiput, flat face, broad eyebrows, nystagmus, flat and short nose bridge, short nose, dysplastic ears, prominent lower lip, short neck, short fingers and toes, spade-shaped tapering fingers p22       624544 proband, IV-3 (VR) monosoy of 7p22-pter; mother had balanced t(7;12) Edit
40 11907622_t(6;7) 46, XY, t(6;7)(p21;p22) azoospermia p22       11907622 MCN ID: 20020035-999 first reported in Wang et al., 1997, Chin J Birth Health Hered 5: 96-9; www.mcndb.org Edit
41 1052767_RF 46, XY, t(7;17)(p22;q21) de novo infertility p22       1052767 R.F. (PK230/11/73); MCN ID: 19750009-999 www.mcndb.org Edit
42 50273_1 46, XX, t(6;7)(p11;p22) mat ovarian dysfunction, uterus bicornis subseptus, streak gonad p22       50273 case 1; MCN ID: 19750002-999 healthy mother had same translocation; www.mcndb.org Edit
43 9147109_t(2;7) 46, XY, t(2;7)(q23;p22) mat infertility p22       9147109 MCN ID: 19930002-178 www.mcndb.org Edit
44 8351488 46, XY, t(Y;7)(q11.2;p22) azoospermia p22       8351488 MCN ID: 19930017-99 www.mcndb.org Edit
45 3490211_11_1 4?, X?, t(X;?)(q26;?), del(1)(p32), del(1)(p32)(q41), del(1)(p13), del(5)(p13), del(6)(q21), t(?2;7)(7qter>7p22 or p15::2q21 or q13>2qter), del(7)(p11), t(9;?)(9pter>9qter::?), t(11;?)(11qter>11p13::?), t(?;11;?)(?::11qter>11p13::?), t(19;?) and some unidentified [not fully karyotyped] non-Hodgkin's lymphoma: diffuse, histiocytic p22 p15     3490211 11   Edit
46 3315191_N41 45, X, -Y, add(2)(q37), del(2)(p11p13), add(3)(q27), del(6)(q21q25), add(7)(p22), -8, -12, -13, -13, +3mar [15]/ 46, XY [1] diffuse large B-cell lymphoma p22       3315191 N41 Mitelman Databaase, Reference No. 2345 Edit
47 2990318 46, XX [169]/ 46, XX, t(2;7)(q33;p22) [12]/ 46, XX, t(1;21)(q34;q22) [2]/ 46, XX, t(2;5)(p14;q32) [1%]/ 46, XX, t(6;7)(p21;p22) [1]/ 46, XX, del(1)t(1;13)(p21p31;q34) [1]/ 45, XX, -1, -13, +dic(1;13)(p35;q32?) [0.5%]/ 46, XX, r(2)(p25q11?) [1]/ 46, XX, del(2)(q11) [1]/ 46, XX, del(3)(p21) [1]/ 46, XX, del(4)(p11) [1]/ 46, XX, 9q+ [0.5%]/ 46, XX, 12p+ [2]/ other karyotypes [6] Wilms' tumor p22       2990318     Edit
48 6235485_lab46_t(7;20) 46, XX, t(7;20)(p22;q11) mat phenotype not given p22       6235485 balanced autosomal rearrangement from lab 46 amniocentesis Edit
49 ECACC_98112616 46, XX, t(7;12)(p?22;?)/ 46, XX developmental delay, hypotonia p22       98112616 (cell line: BH0109) www.ecacc.or.uk Edit
50 1017320 46, X, t(X;7)(q21;p22) secondary amenorrhea, phenotypically normal p22   D7S544E/ D7S472   1017320, 831158, 1663489, 8425221, 10377420 GM1696 (GM01696), case 50 [10377420] fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository; somatic cell hybrid clones: 1696RAG 2-2, 1696RAG 12-3: www.uni-marburg.de/h umgen; molecular data unpublished Edit
51 738728_17524 46, XX, der(7)t(7;9)(p2203;p2100) pat phenotype not given p22       738728 17524 monosomy 7p22-pter; father had balanced t(7;9) Edit
52 738728_1062 46, XX, t(6;7)(q11;p2205) mat spontaneous abortion p22       738728 1062 mother had balanced t(6;7) Edit
53 3479040_BDI41205 46, XX, der(7)t(3;7)(p14;p22) mat phenotype not given p22       3479040 BDI I41205 monosomy of 7p22-pter; amniocentesis was performed because mother was a translocation carrier Edit
54 8112744 46, XY, der(8)t(7;8)(p22;q12) phenotype not given p22       8112744     Edit
55 1171079 46, XX, t(7;13)(p22;q14) four spontaneous abortions p22       1171079, 511145     Edit
56 4025390 46, XY, der(7)t(7;16)(p22;p13) pat chondroplasia punctata, microcornea, shallow orbits, thin lips, submucous cleft palate, abnormal ears, short neck, excess skin on the abdomen, clinodactyly of II and V fingers, vertebral hypoplasia, absence of the gallbladder p22       4025390 baby boy A monosomy of 7p22-pter; father had balanced t(7;16) Edit
57 1928105_9 46, XX, t(7;16)(p22;q24) de novo volvulus obstruction of duodenum, patent ductus arteriosus, abnormal carotid artery origin, absent lung lobulation, annular pancreas, died at 5 days of age p22       1928105 9th case in Table 3   Edit
58 NIGMS_GM10393 46, XY, add(7)(p22). ish der(7)t(X;7)(p21;p22)(STS+, wcpX+, D7S589+). rev ish enh(Xpter->Xp21) phenotype not given p22       GM10393 monosomy of 7p22-pter; lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
59 14999294_46 46, X, t(X;12)(q24;p13), inv(2)(p13q37)/ 46, idem, t(9;19)(q34;q13.1)/ 46, idem, der(7)t(1;7)(q23-25;p15~22), t(8;10)(q24.1;q22), t(9;19)(q34;q13.1) acute lymphoblastic leukemia p22-15       14999294 46 Mitelman Database, Reference No. 10554 Edit
60 14999294_51 46, XX, add(7)(p22), del(9)(p21p24) acute lymphoblastic leukemia p22       14999294 51 Mitelman Database, Reference No. 10554 Edit
61 14999294_52 48, XY, der(2)t(2;12)(q33;q13), add(7)(p?22), del(8)(p21), +10, -12, -15, add(17)(p11.2), +21, +2mar acute lymphoblastic leukemia p22       14999294 52 Mitelman Database, Reference No. 10554 Edit
62 11078497_3_1 45, XX, del(1)(q25), der(7;7)t(7;7)(q11;p22)t(7;15)(q32;q22), -11, -12, del(13)(q12q22), add(14)(p11), -15, -22, +r, +2mar acute lymphoblastic leukemia p22 q11.2     11078497, 14999294 3 [11078497], 73 [14999294] Mitelman Database, Reference No. 8944 Edit
63 14734224_1 46, XY, der(7)t(7;7)(p22;q31)del(7)(q32q33), r(7)(p22q22) [6]/ 45, XY, idem, der(2)t(2;22)(p24?;q11), add(8)(q24), -22 [7] splenic marginal zone lymphoma p22 q31     14734224 76-year-old man   Edit
64 9552025_94 50, XY, +2, t(7;8)(p22;q24.1), +8, +10, +19 acute lymphoblastic leukemia p22       9552025 94 Mitelman Database, Reference No. 7566 Edit
65 MCN_19820001-058 46, XY, t(7;8)(10;11)(p22;q24.1)(q26;q23) de novo hypogonadism/d elayed puberty, long/large ear, mental retardation, hypothyroidism/small/a bsent thyroid, behaviour disorder/hyperactivity/p sychosis, short stature - postnatal, seizures p22       MCN ID: 19820001-058 www.mcndb.org Edit
66 MCN_19840002-035 46, XX, t(5;7)(q13;p22) mental retardation, dislocated hip, generalised obesity p22       MCN ID: 19840002-035 www.mcndb.org Edit
67 MCN_19860001-059 46, X, t(X;7)(q22;p22) mental retardation, primary amenorrhoa p22       MCN ID: 19860001-059 www.mcndb.org Edit
68 MCN_19990002-133 46, XY, t(1;5;7)(p32;q15;p22) facies significantly abnormal, Shunt VSD/ASD/PDA, broad/bifid thumb, polydactyly - postaxial (ulnar)/type unspecified, polydactyly of feet - postaxial/type unspecified, Syndactyly (other than minimal 2nd and 3rd toes), micrognathia/a gnathia total/retrognathia p22       MCN ID: 19990002-133 www.mcndb.org Edit
69 MCN_19970064-224 46, XY, t(5;7)(q12;p22) mental retardation, paresis of ocular muscles/squint p22       MCN ID: 19970064-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
70 MCN_20000007-227 46, XX, der(4)t(4;7)(p16.3;p22) de novo mental retardation, cleft hard palate, shunt VSD/ASD/PDA, overlapping toes, small for gestational age (IUGR), low set ears p22       MCN ID: 20000007-227 trisomy of 7p22-pter; www.mcndb.org Edit
71 MCN_19920002-008 46, XY, t(5;13)(q11.2;q32.1), t(7;8)(p22;q21) macrocephaly, mental retardation, broad nasal bridge, abnormal cardiovascular structure/function p22       MCN ID: 19920002-008 www.mcndb.org Edit
72 MCN_19970081-224 46, XX, t(1;7)(p32;p22) mental retardation p22       MCN ID: 19970081-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
73 MCN_19940001-159 46, XY, t(1;5;7;12) arachnodactyly p22       MCN ID: 19940001-159 breakpoints: 5q12, 7p22, 1p36.1, 5q23, 12q14, 1p31; www.mcndb.org Edit
74 MCN_19970146-224 46, XY, t(6;7)(q13;p22) mental retardation, anteverted nostrils, hypertelorism, paresis of ocular muscles/squint p22       MCN ID: 19970146-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
75 1591708 46, XX, del(5)(q31.1), der(7)t(6;7)(p21;p22)/ 46, XX low-grade endometrial stromal sarcoma p22       1591708, 7923082, 7497450, 10335941, 10432932, 12850374 3 [7923082, 10335941], 4 [7497450, 10432932, 12850374]   Edit
76 9826456_6 29-39, -X, -X, der(2)t(X;2)(q13;p23-24), -3, -5, add(6)(p22-23), del(6)(q21q27), del(8)(p12), der(8)dic(8;13)(p23;p13), -9, der(10)t(3;10)(q13;q21), -11, -11, add(12)(q13), -13, add(14)(q32), -15, add(15)(p11), ?add(17)(q11), -18, -19, add(20)(q13), add(21)(p11), add(22)(q13), +der(?)t(?;5)(?;q13), +der(?)t(?;11)(?;q13), +mar/ 37-39, -X, -X, der(2)t(X;2), -4, add(6), del(6), der(7)t(3;7)(p2?2;p22), dic(8;13), -11, -11, add(12)(p11), -13, ?del(13)(q21q34), -15, -16, -17, ?add(17), -18, -19, add(20), add(21), add(22), +der(?)t(?;4)(?;q21), +der(?)(?;11) uterine leiomyosarcoma p22       9826456 6 Mitelman Database, Reference No. 7996 Edit
77 9826456_8 65-80, X, -X, add(X)(q11), add(1)(q32)x2, der(1)t(1;3)(q25;p21), add(2)(q21), tas(2;4)(q37;p16), der(5)t(5;11)(q13;q13), der(7)t(7;8)(p22;q22), der(16)t(16;17)(q13;q21), del(18)(p11), add(19)(q13), add(22)(q13), der(22)t(9;22)(q12;q13), +der(?)t(?;12)(?;q13), +r, inc [primary tumor]
73-80, X, add(X)(p11), add(X)(q11.2), add(1)(q32)x2, del(1)(q11), t(2;10)(p10;q10), del(3)(p11p21), add(4)(q27), der(5)t(2;5)(q21;q11), add(6)(q27), der(8)t(5;8)(p13;p11)x2, add(8)(p21), add(13)(q34), der(17)t(11;17)(p11;p11)x2, add(19)(q13), der(22)t(9;22)(q12;q13) [cp12]/ 121-161, idemx2, -del(1)(q1), -del(18)(p11) [cp5] [uterus, at recurrence]
malignant mixed mesodermal tumor p22       9826456 8 Mitelman Database, Reference No. 7996 Edit
78 8547143 46, XX, t(7;9;22)(p22;q34;q11) [at diagnosis]
46, XX [at remission]
acute myeloblastic leukemia without maturation-M1 p22       8547143   Mitelman Database, Reference No. 6293 Edit
79 3456823 48, XY, +Y, t(7;22)(p22;q11), +8, t(9;22)(q34;q11), i(17)(q10) chronic myeloid leukemia p22       3456823   Mitelman Database, Reference No. 1590 Edit
80 9797774_8 44, X, -X, del(5)(q13q33), add(7)(p22), add(11)(q13), -16, add(17)(p13), -18, i(21)(q10), +2mar refractory anemia with excess of blasts in transformation p22       9797774 8 Mitelman Database, Reference No. 7722 Edit
81 10469450_83 46. XY, t(7;12)(p22;q15), der(10)t(10;14)(q24;q22), del(14)(q22) [10] pulmonary chondroid hamartoma p22       10469450 83 Mitelman Database, Reference No. 8134 Edit
82 12136233_6 46, XX, der(7)t(7;7)(p22;q36) de novo intrauterine growth retardation, left ventricular hypertrophy with significant septal hypertrophy of the heart, dysplasia of the right hip, significant muscular hypotonia, dysmorphic features, significantly wide-open fontanelle, speech delay, scoliosis, inspiration stridor because of partial tracheomalazia p22 q36     12136233 case 6 monosomy of 7q36-qter and trisomy of 7p22-pter Edit
83 Mark1979_8 45, X, del(X)(q24), del(1)(p11), +del(1)(q21), del(2)(q22), del(3)(q21-22), del(6)(p11), del(6)(q15), der(7)t(7;9)(p22;q13), der(8)t(8;?10)(p23;q21), del(9)(q13), -10, del(10)(q21), der(11)t(?2;11)(q22;q23), -13, del(14)(q24), del(15)(q22), del(16)(q22), +17, -19 histiocytic diffuse lymphoma p22       8 Mark et al., 1979, Cancer Genet Cytogenet 1: 39-56; Mitelman Database, Reference No. 556 Edit
84 2265404_57 46, XX, t(7;13)(p22;q12) [100%] adenocarcinoma of the thyroid p22       2265404 57 Mitelman Database, Reference No. 3637 Edit
85 10640979_4 40, X, der(Y)t(Y;1)(q21;q10), -1, -10, -14, -15, -18, -22 [2]/ 40, idem, tas(7;20)(p22;q13) [20] meningioma of the brain p22       10640979 4 Mitelman Database, Reference No. 8428 Edit
86 2278958_40_2 97, XXXX, +X, -6, del(7)(q22q32), inv(9)x2, -10, der(13)t(?8;13)(?q13;q34), -14, add(17), +18, +add(18), add(19), +21, +21, +r, +2mar/ 99, idem, +add(7)(p22), del(7)(q3?4)x2, +del(10)(q22q24) chronic lymphocytic leukemia p22       2278958 40 Mitelman Database, Reference No. 3294 Edit
87 8464228_16 46, X, del(X)(q22q23), -4, add(7)(p22), del(15)(q11q21), add(20)(q13) Acute myeloblastic leukemia without maturation - M1 p22       8464228 16 Mitelman Database, Reference No. 4857 Edit
88 1377005_2 80-96, XY?, add(7)(p22), add(10)(q24), dmin, inc prostate cancer p22       1377005 2 Mitelman Database, Reference No. 4067 Edit
89 1756498 46, XX, inv(16)(p13q22) [100]/ 46, idem, t(7;22)(p22;q13) [5]/ 46, XX [5] acute myelomonocytic leukemia - M4 p22       1756498 present case (case 23) Mitelman Database, Reference No. 4092 Edit
90 3478133_2601 46, XY, t(2;7)(p21;p22) acute monoblastic leukemia - M5b p22       3478133, 3419390 2601 Mitelman Database, Reference No. 2099 Edit
91 Cantagrel_ESHG2003 46, XX, t(2;7)(q35;p22) de novo hydrocephaly [detected by US], partial syndactyly of digits and toes, polymicrogyria, nodular heterotopia p22       33 week-old fetus Cantagrel et al., ESHG 2003, P292 (ASHG 2004, Program #839) Edit
92 15325089_24 46, XX, inv(16)(p13q22)/ 46, idem, der(7)t(7;11)(p22;q21) [revised based on CGH] acute myelomonocytic leukemia with eosinophilia - M4Eo p22       15325089 24 Mitelman Database, Reference No. 10755 Edit
93 2981607_8 38, XX, -4, add(4)(q?), der(6)add(6)(p24)t(6;15)(q13;q14), der(7)t(7;9)(p22;q34)add(7)(q33), -8, der(9)ins(9;13)(p21;q13q34)del(9)(p21), der(11)t(8;11)(q12;p13),- 13, -14, -14, -15, -17, der(17)i(17)(q10)t(4;17)(?;q25)ins(17;?)(q25; ?), -18, -20, der(21)t(18;21)(q11;p12), +mar Wilms tumor p22       2981607 8 Mitelman Database, Reference No. 1297 Edit
94 6091875_5 53, XY, +6, +der(7)t(3;7)(q13;p22), +8, +9, +12, +13, +17 [6%]/ 54, idem, +18 [12%]/ 55, idem, +dup(1)(q2?q3?), +18 [44%]/ 55, idem, +inv dup(1)(q21q31.3), +18 [34%] Wilms tumor p22       6091875 5 Mitelman Database, Reference No. 1287 Edit
95 9559347 46, XX, t(7;12)(p22;q22) Wilms tumor p22       9559347     Edit
96 12550766_65_1 47, XY, +1, der(1;16)(q10;p10), add(7)(p22), +12 [18] /48, idem, +7 [3]/ 46, XY [2] [sample 1]
46-48, XY, +1, der(1;16), +add(7)(p22), +12, add(19)(p13) [3]/ 47, XY, +1, der(1;16), del(3)(q11), +add(7), +12, add(18)(q23) [cp3]/ 44-47, XY, +1, der(1;16), del(3)(p11), der(7)t(3;7)(p2?1;p22)ins(7;?)(p22;?), +12, add(18)(q21) [5]/ 46, XY, del(5)(q31), add(7)(q32) [4]/ 46, XY [4] [sample 2]
Wilms tumor p22 q32     12550766 65 Mitelman Database, Reference No. 9917 Edit
97 12606126_42 70-71, XY, add(1)(p21), der(1;5)(q21;q10), dup(1)(q21q31), add(2)(q27), del(2)(q31), inv(3)(q?23q?27), del(4)(p11p15), ?del(6)(p12), add(7)(p22), +der(8)t(1;8)(q21;p23), del(9)(q22), add(10)(p11), ?t(10;19)(p11;q13), -11, +12, t(12;17)(q13;q25), +?del(13)(q12q22), -14, -15, -16, der(17)t(17;17)(p11;q11)t(12;17)(q13;q25), del(18)(q21), +mar Wilms tumor p22     12606126 42 Mitelman Database, Reference No. 9965 Edit
98 2207332_25 46, XY, del(6)(q21q23), add(7)(p22) early pre-B-cell acute lymphoblastic leukemia p22       2207332 25 Mitelman Database, Reference No. 3651 Edit
99 2207332_38 46, XX, add(7)(p22), t(10;11)(p14-15;q22-23), del(18)(q12)/ 47, idem, +del(6)(q15q25) T-cell acute lymphoblastic leukemia p22       2207332 38 Mitelman Database, Reference No. 3651 Edit
100 1321916_39_1 50, X, -Y, +7, +7, +16, +17, +20/ 50, idem, der(7)t(3;7)(q21;p22)/ 50, idem, der(17)t(3;17)(q21;p13)/ 50, idem, der(19)t(3;19)(q21;q13) renal adenocarcinoma p22       1321916 39 Mitelman Database, Reference No. 4577 Edit
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