89:
65:
200:. The phenotypic characteristics of WHS are thought to be caused by the haploinsufficiency of the genes Wolf-Hirschhorn syndrome candidate 1 (WHSC1), which is associated with craniofacial features and growth delay, and Homo Sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), which is associated with seizures.
252:
The symptoms can vary from person to person, so the patient should receive different types of evaluations including a neurological, cardiac, and renal evaluation. Eye and hearing exams are essential, as well as a feeding and developmental evaluation. Clinicians treat WHS by addressing the symptoms
243:
Initial diagnosis is based on a distinct craniofacial phenotype after birth. Diagnosis of WHS is confirmed by the detection of a deletion in the WHSCR. Chromosomal microarray and
Cytogenetic analysis.D4S96 or D4Z1 chromosome band 4p16.3–specific probe (Wolf-Hirschhorn region, Vysis, Inc) is
218:
A more uncommon cause for WHS is the formation of a ring chromosome. A ring chromosome can form when a chromosome breaks apart and forms a circular structure to fuse together. That process may initiate gene loss towards the ends of the chromosome.
518:
Rauch A, Schellmoser S, Kraus C, Dörr HG, Trautmann U, Altherr MR, Pfeiffer RA, Reis A (April 2001). "First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation".
222:
Severity of symptoms and expressed phenotype differ based on the amount of genetic material deleted. The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and
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791:
253:
experienced by the individual. Some treatment methods are surgery for growth abnormalities, educational programs that can help with cognition, physical therapy for muscle building, and medication for seizures.
339:
Dufke A, Seidel J, Schöning M, Döbler-Neumann M, Kelbova C, Liehr T, Beensen V, Backsch C, Klein-Vogler U, Enders H (2000). "Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome".
554:
Mbuyi-Musanzayi, Sébastien; Lumaka, Aimé; Kasole, Toni; Ilunga, Erick; Asani, Bienvenu; Tshilobo, Prosper; Muenze, Prosper; Reychler, Hervé; Katombe, François; Devriendt, Koenraad (September 2017).
276:
Thereafter, the syndrome gained worldwide attention after publications by the German geneticist Ulrich Wolf and his co-workers, specifically their articles in the German scientific magazine
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1714:
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17:
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The minimum birth incidence has been estimated as 1 in 50,000. For unknown reasons, WHS occurs twice as often in females than in males.
702:
Hirschhorn K, Cooper HL, Firschein IL (1961). "Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion".
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Hanley-Lopez J, Estabrooks LL, Stiehm R (July 1998). "Antibody deficiency in Wolf-Hirschhorn syndrome".
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211:. In the cases of familial transmission, there is a 2 to 1 excess of maternal transmission. Of the
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556:"Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa"
88:
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Wolf–Hirschhorn syndrome was first described in 1961 by the
Austrian-born American pediatrician
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of the iris, renal anomalies, and deafness. Antibody deficiencies are also common, including
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408:"Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome"
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Young girl displaying characteristic facial features of Wolf–Hirschhorn syndrome
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The most common characteristics include a distinct craniofacial phenotype (
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Wolf U, Reinwein H, Porsch R, Schröter R, Baitsch H (1965). "".
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628:"Wolf-Hirschhorn Syndrome - Symptoms, Causes, Treatment | NORD"
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deletion, while about 13% are inherited from a parent with a
153:, muscle hypotonia, seizures, and congenital heart defects.
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113:. Features include a distinct craniofacial phenotype and
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resulting from a partial deletion on the short arm of
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773:
697:
695:
405:
149:ears and periauricular tags), growth restriction,
652:"Wolf-Hirschhorn Syndrome: Symptoms & Causes"
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676:"Wolf-Hirschhorn syndrome: MedlinePlus Genetics"
604:"Wolf-Hirschhorn syndrome: MedlinePlus Genetics"
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1700:46,XX testicular disorders of sex development
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382:: CS1 maint: DOI inactive as of July 2024 (
1522:Acute myeloblastic leukemia with maturation
920:https://www.ncbi.nlm.nih.gov/books/NBK1183/
390:
314:Rapini RP, Bolognia JL, Jorizzo JL (2007).
188:within HSA band 4p16.3 of the short arm of
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87:
63:
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511:
446:
423:
332:
318:. St. Louis: Mosby. pp. 892, 894.
307:
14:
1758:
45:Chromosome deletion Dillan 4p syndrome
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120:
521:American Journal of Medical Genetics
215:cases, 80% are paternally derived.
156:Less common characteristics include
1635:Desmoplastic small-round-cell tumor
299:Online Mendelian Inheritance in Man
292:
24:
1766:Autosomal monosomies and deletions
225:fluorescence in situ hybridization
25:
1787:
769:
303:Wolf-Hirschhorn syndrome - 194190
235:is offered to affected families.
1208:22q11.2 distal deletion syndrome
192:, particularly in the region of
166:common variable immunodeficiency
1607:Dermatofibrosarcoma protuberans
1550:Acute megakaryoblastic leukemia
1478:Anaplastic large-cell lymphoma
1140:Chromosome 5q deletion syndrome
668:
644:
620:
256:
203:About 87% of cases represent a
596:
547:
447:Wieczorek D (September 2003).
440:
406:Paradowska-Stolarz AM (2014).
342:Cytogenetics and Cell Genetics
180:Wolf–Hirschhorn syndrome is a
13:
1:
1330:Klinefelter syndrome (47,XXY)
1095:1q21.1 copy number variations
560:Journal of Pediatric Genetics
497:10.1016/S0022-3476(98)70194-5
285:
107:chromosomal deletion syndrome
27:Chromosomal deletion syndrome
1536:Acute promyelocytic leukemia
1492:Acute lymphoblastic leukemia
1184:17q12 microdeletion syndrome
1059:22q11.2 duplication syndrome
1037:16p11.2 duplication syndrome
247:
238:
7:
1103:1q21.1 duplication syndrome
990:1q21.1 duplication syndrome
175:
10:
1792:
927:on Genetics Home Reference
449:"Wolf-Hirschhorn syndrome"
264:
244:available for FISH study.
49:Pitt–Rogers–Danks syndrome
18:Pitt–Rogers–Danks syndrome
1678:
1649:Alveolar rhabdomyosarcoma
1571:
1500:
1430:
1417:
1408:
1384:XYYYY syndrome (49,XYYYY)
1350:XXXXY syndrome (49,XXXXY)
1345:XXXYY syndrome (49,XXXYY)
1307:
1289:
1275:
1084:
977:
968:
858:
777:
485:The Journal of Pediatrics
316:Dermatology: 2-Volume Set
76:
71:
62:
40:
35:
1124:Wolf–Hirschhorn syndrome
1099:1q21.1 deletion syndrome
962:Chromosome abnormalities
925:Wolf-Hirschhorn syndrome
895:Wolf-Hirschhorn Syndrome
884:Wolf–Hirschhorn syndrome
209:chromosome translocation
99:Wolf–Hirschhorn syndrome
36:Wolf–Hirschhorn syndrome
1508:Philadelphia chromosome
1379:XYYY syndrome (48,XYYY)
1340:XXXY syndrome (48,XXXY)
1335:XXYY syndrome (48,XXYY)
1220:22q13 deletion syndrome
995:2q31.1 microduplication
356:(inactive 2024-07-15).
151:intellectual disability
115:intellectual disability
1367:Pentasomy X (49,XXXXX)
1299:Turner syndrome (45,X)
1180:Smith–Magenis syndrome
1176:Miller–Dieker syndrome
1111:1p36 deletion syndrome
572:10.1055/s-0037-1599194
182:microdeletion syndrome
1374:XYY syndrome (47,XYY)
1362:Tetrasomy X (48,XXXX)
1245:Prader–Willi syndrome
456:Orphanet encyclopedia
168:and IgA deficiency.
1466:Mantle cell lymphoma
1136:Cri du chat syndrome
273:and his colleagues.
1452:Follicular lymphoma
425:10.17219/acem/24111
1691:Uniparental disomy
1686:Fragile X syndrome
1621:Myxoid liposarcoma
1473:t(11 CCND1:14 IGH)
1357:Trisomy X (47,XXX)
1235:genomic imprinting
1015:Distal trisomy 10q
859:External resources
716:10.1007/bf00279124
233:genetic counseling
121:Signs and symptoms
1753:
1752:
1705:Marker chromosome
1674:
1673:
1567:
1566:
1404:
1403:
1271:
1270:
1241:Angelman syndrome
1196:DiGeorge syndrome
1164:Jacobsen syndrome
1152:Williams syndrome
915:
914:
533:10.1002/ajmg.1203
354:10.1159/000056823
325:978-1-4160-2999-1
96:
95:
30:Medical condition
16:(Redirected from
1783:
1696:XX male syndrome
1593:Synovial sarcoma
1470:Multiple myeloma
1438:Burkitt lymphoma
1428:
1427:
1415:
1414:
1318:other karyotypes
1287:
1286:
1069:Cat-eye syndrome
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656:Cleveland Clinic
648:
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632:rarediseases.org
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458:. Archived from
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412:Adv Clin Exp Med
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1710:Ring chromosome
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680:medlineplus.gov
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229:Genetic testing
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170:T-cell immunity
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23:
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1776:Genodermatoses
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1020:Patau syndrome
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778:Classification
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770:External links
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753:(5): 397–413.
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1579:Ewing sarcoma
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1263:Proximal 18q-
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1047:Down syndrome
1045:
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1038:
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978:Duplications,
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749:(in German).
748:
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721:
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713:
710:(5): 479–82.
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527:(4): 338–42.
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465:on 2021-03-09
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348:(1–4): 81–4.
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143:hypertelorism
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57:Pitt syndrome
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1107:TAR syndrome
1010:Tetrasomy 9p
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747:Humangenetik
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704:Humangenetik
703:
683:. Retrieved
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635:. Retrieved
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611:. Retrieved
607:
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491:(1): 141–3.
488:
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467:. Retrieved
460:the original
455:
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418:(3): 485–9.
415:
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378:cite journal
345:
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279:Humangenetik
277:
275:
268:
260:
257:Epidemiology
251:
242:
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217:
212:
204:
202:
190:chromosome 4
184:caused by a
179:
155:
137:, prominent
131:micrognathia
127:microcephaly
124:
111:chromosome 4
102:
98:
97:
56:
52:
48:
44:
1396:46,XX/46,XY
1313:tetrasomies
1259:Distal 18q-
890:GeneReviews
172:is normal.
158:hypospadias
41:Other names
1760:Categories
1391:45,X/46,XY
1291:Monosomies
1064:Trisomy 22
1042:Trisomy 18
1032:Trisomy 16
980:including
879:Patient UK
844:DiseasesDB
685:2023-10-10
661:2023-10-10
637:2023-10-10
613:2023-10-10
469:2004-11-13
286:References
162:colobomata
147:dysplastic
1309:Trisomies
1086:Deletions
1005:Trisomy 9
1000:Trisomy 8
982:trisomies
970:Autosomal
868:eMedicine
248:Treatment
239:Diagnosis
141:, ocular
78:Specialty
1431:Lymphoid
1423:lymphoma
1419:Leukemia
901:Orphanet
873:ped/2446
732:32805973
590:28794913
541:11252005
434:24979523
370:19641395
362:11173835
301:(OMIM):
227:(FISH).
186:deletion
176:Genetics
139:glabella
135:philtrum
133:, short
1659:) t (1
1526:RUNX1T1
1501:Myeloid
1322:mosaics
838:D054877
759:5868696
724:5895684
581:5548528
505:9672528
265:History
213:de novo
205:de novo
105:) is a
1611:COL1A1
1283:linked
827:194190
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539:
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198:WHSCR2
194:WHSCR1
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1679:Other
1665:FOXO1
1663:; 13
1657:FOXO1
1655:; 13
1641:; 22
1637:t(11
1627:; 16
1625:DDIT3
1623:t(12
1615:PDGFB
1609:t(17
1585:; 22
1581:t(11
1572:Other
1554:RBM15
1538:t(15
1530:RUNX1
1514:; 22
1454:t(14
849:32279
816:758.3
801:Q93.3
728:S2CID
463:(PDF)
452:(PDF)
366:S2CID
1661:PAX7
1653:PAX3
1651:t(2
1613:;22
1599:;18
1595:t(x
1583:FLI1
1558:MKL1
1556:;22
1552:t(1
1544:RARA
1542:,17
1528:;21
1524:t(8
1510:t(9
1486:NPM1
1480:t(2
1460:BCL2
1458:;18
1444:;14
1440:t(8
833:MeSH
822:OMIM
811:9-CM
755:PMID
720:PMID
586:PMID
537:PMID
501:PMID
430:PMID
384:link
358:PMID
320:ISBN
231:and
196:and
53:PRDS
1643:EWS
1639:WT1
1629:FUS
1601:SSX
1597:SYT
1587:EWS
1540:PML
1516:BCR
1512:ABL
1484:;5
1482:ALK
1456:IGH
1446:IGH
1442:MYC
906:280
807:ICD
792:ICD
712:doi
576:PMC
568:doi
529:doi
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