113:
language-based learning disabilities and behavioral features consistent with diagnoses of autism and attention deficit hyperactivity disorder (ADHD) of the inattentive type. He also displays some other features previously associated with chromosome 3q29 microdeletion such as an elongated face, long fingers, and joint laxity. Most notably the patient, per formal IQ testing, did not have an intellectual disability. The patient demonstrated an average full-scale IQ result. This is notable because previously reported patients with chromosome 3q29 terminal deletion had intellectual disabilities. This report further expands the phenotypic spectrum to include the possibility of normal intelligence as corroborated by formal, longitudinal psycho-educational testing.
126:
112:
The variability of phenotype is underscored by the report on a 6 and 9/12-year-old male patient with a de novo chromosome 3q29 microdeletion identified by BAC array comparative genomic hybridization assay (aCGH), with accompanying normal 46,XY high-resolution chromosome analysis. The patient has
503:
300:
Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG (2008).
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37:
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Cobb W, Anderson A, Turner C, Hoffman RD, Schonberg S, Levin SW (2010). "1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child".
435:
Rees E, Walters JT, Georgieva L, Isles AR, Chambert KD, Richards AL, Mahoney-Davies G, Legge SE, Moran JL, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G (February 2014).
1615:
386:
Mulle JG, Dodd AF, McGrath JA, Wolyniec PS, Mitchell AA, Shetty AC, Sobreira NL, Valle D, Rudd MK, Satten G, Cutler DJ, Pulver AE, Warren ST (August 2010).
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101:, chest-wall deformity and long, tapering fingers were found in at least two patients. A review of 14 children with interstitial
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302:"Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication"
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168:. In addition, a deletion at 3q29 was found to confer an increase to the odds of developing schizophrenia in a study of
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of 3q29, found 11 who had the common recurrent 1.6Mb deletion and displayed intellectual disability and
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259:"Clinical and molecular characterization of a new syndrome: the case of 3q29 microdeletion syndrome"
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and other populations showed that 3q29 microdeletion syndrome leads to a significant higher rate of
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of 3q29 microdeletion syndrome is variable. Clinical features can include mild to moderate
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210:"3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome"
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and a high nasal bridge). Of the 6 reported patients, additional features including
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437:"Analysis of copy number variations at 15 schizophrenia-associated loci"
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Patient-centered information and resources are available through
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388:"Microdeletions of 3q29 confer high risk for schizophrenia"
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136:
208:
Willatt L, Cox J, Barber J, et al. (July 2005).
160:
Research on the risk for developing schizophrenia in
485:
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924:
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702:
659:
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541:
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26:
21:
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65:. This syndrome was first described in 2005.
44:Chromosome 3 is associated with this condition
1540:46,XX testicular disorders of sex development
786:
594:
8:
1362:Acute myeloblastic leukemia with maturation
1267:
1254:
1126:
814:
793:
779:
771:
656:
601:
587:
579:
486:
35:
18:
1621:Syndromes with craniofacial abnormalities
460:
411:
327:
317:
233:
728:Mutation with respect to overall fitness
197:
1616:Syndromes with intellectual disability
7:
1475:Desmoplastic small-round-cell tumor
172:and their effect on that disorder.
1606:Autosomal monosomies and deletions
653:Mutation with respect to structure
14:
275:10.1111/j.1399-0004.2006.00570c.x
1048:22q11.2 distal deletion syndrome
124:
1447:Dermatofibrosarcoma protuberans
1390:Acute megakaryoblastic leukemia
1318:Anaplastic large-cell lymphoma
980:Chromosome 5q deletion syndrome
1:
1170:Klinefelter syndrome (47,XXY)
935:1q21.1 copy number variations
30:3qter deletion, Monosomy 3q29
1376:Acute promyelocytic leukemia
1332:Acute lymphoblastic leukemia
1024:17q12 microdeletion syndrome
899:22q11.2 duplication syndrome
877:16p11.2 duplication syndrome
943:1q21.1 duplication syndrome
830:1q21.1 duplication syndrome
574:3q29 microdeletion syndrome
51:3q29 microdeletion syndrome
22:3q29 microdeletion syndrome
1637:
710:Chromosomal translocations
404:10.1016/j.ajhg.2010.07.013
365:10.1016/j.ejmg.2010.08.009
85:facial features (long and
1489:Alveolar rhabdomyosarcoma
1224:XYYYY syndrome (49,XYYYY)
1190:XXXXY syndrome (49,XXXXY)
1185:XXXYY syndrome (49,XXXYY)
453:10.1192/bjp.bp.113.131052
43:
34:
964:Wolf–Hirschhorn syndrome
939:1q21.1 deletion syndrome
802:Chromosome abnormalities
532:C567184 C567184, C567184
1348:Philadelphia chromosome
1219:XYYY syndrome (48,XYYY)
1180:XXXY syndrome (48,XXXY)
1175:XXYY syndrome (48,XXYY)
1060:22q13 deletion syndrome
835:2q31.1 microduplication
750:Nearly neutral mutation
79:intellectual disability
1611:Rare genetic syndromes
1207:Pentasomy X (49,XXXXX)
1139:Turner syndrome (45,X)
1020:Smith–Magenis syndrome
1016:Miller–Dieker syndrome
951:1p36 deletion syndrome
760:Nonsynonymous mutation
715:Chromosomal inversions
617:Mechanisms of mutation
133:This section is empty.
1214:XYY syndrome (47,XYY)
1202:Tetrasomy X (48,XXXX)
1085:Prader–Willi syndrome
740:Advantageous mutation
679:Conservative mutation
319:10.1186/1755-8166-1-8
1306:Mantle cell lymphoma
976:Cri du chat syndrome
735:Deleterious mutation
703:Large-scale mutation
170:copy number variants
1292:Follicular lymphoma
755:Synonymous mutation
689:Frameshift mutation
57:resulting from the
1531:Uniparental disomy
1526:Fragile X syndrome
1461:Myxoid liposarcoma
1313:t(11 CCND1:14 IGH)
1197:Trisomy X (47,XXX)
1075:genomic imprinting
855:Distal trisomy 10q
542:External resources
257:Koochek M (2006).
1593:
1592:
1545:Marker chromosome
1514:
1513:
1407:
1406:
1244:
1243:
1111:
1110:
1081:Angelman syndrome
1036:DiGeorge syndrome
1004:Jacobsen syndrome
992:Williams syndrome
768:
767:
723:
722:
674:Missense mutation
669:Nonsense mutation
570:DECIPHER database
565:
564:
392:Am. J. Hum. Genet
214:Am. J. Hum. Genet
153:
152:
48:
47:
16:Medical condition
1628:
1536:XX male syndrome
1433:Synovial sarcoma
1310:Multiple myeloma
1278:Burkitt lymphoma
1268:
1255:
1158:other karyotypes
1127:
909:Cat-eye syndrome
815:
795:
788:
781:
772:
745:Neutral mutation
694:Dynamic mutation
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285:. Archived from
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135:You can help by
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61:of a segment of
55:genetic disorder
39:
19:
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1635:
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1550:Ring chromosome
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1143:
1107:
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819:
804:
799:
769:
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698:
684:Silent mutation
648:
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441:Br J Psychiatry
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353:Eur J Med Genet
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186:3q29 Foundation
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1250:Translocations
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860:Patau syndrome
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661:Point mutation
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490:Classification
483:
482:External links
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289:on 2013-01-05.
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226:10.1086/431653
196:
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182:rarechromo.org
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162:Ashkenazi Jews
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1419:Ewing sarcoma
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1103:Proximal 18q-
1100:
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890:
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887:Down syndrome
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851:
848:
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833:
831:
828:
827:
825:
823:
818:Duplications,
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813:
811:
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789:
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761:
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633:Substitution
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447:(2): 108–14.
446:
442:
438:
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428:
423:
419:
414:
409:
405:
401:
398:(2): 229–36.
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306:Mol Cytogenet
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220:(1): 154–60.
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166:schizophrenia
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73:The clinical
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52:
42:
38:
33:
29:
25:
20:
1073:
947:TAR syndrome
850:Tetrasomy 9p
637:Transversion
549:
525:
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502:
444:
440:
430:
395:
391:
381:
359:(6): 415–8.
356:
352:
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309:
305:
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287:the original
269:(2): 121–3.
266:
262:
252:
217:
213:
179:
159:
141:
137:adding to it
132:
111:
107:microcephaly
81:with mildly
72:
69:Presentation
63:chromosome 3
50:
49:
1236:46,XX/46,XY
1153:tetrasomies
1099:Distal 18q-
263:Clin. Genet
87:narrow face
27:Other names
1600:Categories
1231:45,X/46,XY
1131:Monosomies
904:Trisomy 22
882:Trisomy 18
872:Trisomy 16
820:including
642:Transition
572:entry for
192:References
83:dysmorphic
53:is a rare
1149:Trisomies
926:Deletions
845:Trisomy 9
840:Trisomy 8
822:trisomies
810:Autosomal
624:Insertion
176:Resources
144:July 2024
103:deletions
75:phenotype
1271:Lymphoid
1263:lymphoma
1259:Leukemia
629:Deletion
610:Mutation
551:Orphanet
471:24311552
422:20691406
373:20832509
338:18471269
283:85261528
244:15918153
184:and the
156:Research
91:philtrum
89:, short
59:deletion
1499:) t (1
1366:RUNX1T1
1341:Myeloid
1162:mosaics
511:: Q93.5
462:3909838
413:2917706
329:2408925
235:1226188
1451:COL1A1
1123:linked
521:609425
469:
459:
420:
410:
371:
336:
326:
281:
242:
232:
117:Causes
99:ataxia
95:autism
1519:Other
1505:FOXO1
1503:; 13
1497:FOXO1
1495:; 13
1481:; 22
1477:t(11
1467:; 16
1465:DDIT3
1463:t(12
1455:PDGFB
1449:t(17
1425:; 22
1421:t(11
1412:Other
1394:RBM15
1378:t(15
1370:RUNX1
1354:; 22
1294:t(14
556:65286
312:: 8.
279:S2CID
1501:PAX7
1493:PAX3
1491:t(2
1453:;22
1439:;18
1435:t(x
1423:FLI1
1398:MKL1
1396:;22
1392:t(1
1384:RARA
1382:,17
1368:;21
1364:t(8
1350:t(9
1326:NPM1
1320:t(2
1300:BCL2
1298:;18
1284:;14
1280:t(8
527:MeSH
516:OMIM
467:PMID
418:PMID
369:PMID
334:PMID
240:PMID
1483:EWS
1479:WT1
1469:FUS
1441:SSX
1437:SYT
1427:EWS
1380:PML
1356:BCR
1352:ABL
1324:;5
1322:ALK
1296:IGH
1286:IGH
1282:MYC
504:ICD
457:PMC
449:doi
445:204
408:PMC
400:doi
361:doi
324:PMC
314:doi
271:doi
230:PMC
222:doi
139:.
1602::
1583:22
1581:,
1579:21
1577:;
1575:20
1573:;
1571:18
1569:;
1567:15
1565:;
1563:14
1561:;
1557:;
1089:15
1065:22
1053:22
1041:22
1029:17
1009:11
953:)
914:22
892:21
865:13
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530::
519::
508:10
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416:.
406:.
396:87
394:.
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367:.
357:53
355:.
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97:,
1559:9
1555:6
1538:/
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1160:/
1155:,
1151:/
1121:Y
1119:/
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1101:/
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1083:/
1022:/
1018:/
997:7
985:5
978:/
969:4
957:1
949:/
945:/
941:/
937:/
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794:e
787:t
780:v
602:e
595:t
588:v
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496:D
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451::
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402::
375:.
363::
340:.
316::
310:1
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