Warkany syndrome

Warkany syndrome: Two distinct congenital syndromes were named after Joseph Warkany, an Austrian-American geneticist and pediatrician, 1902-1992.

Contents

1 Warkany syndrome 1

2 Warkany syndrome 2 (trisomy 8)

3 References

4 External links

Warkany syndrome 1

Warkany syndrome 1 is an X-chromosome linked recessive genetic condition originally described by Warkany in 1961 as part of an article on intrauterine growth retardation.^[1] The family history was consistent with X-linked recessive inheritance of intrauterine growth retardation and small head size, but these features are not unique to this condition and no linkage to a specific gene was ever established. In fact, the condition appears to have been abandoned, given that the OMIM number (308400) assigned to it ([1]) and listed in a review article on X-linked mental retardation^[2] has been removed from the OMIM database. Furthermore, this condition is no longer mentioned in a more recent review of X-linked mental retardation.^[3]

Warkany syndrome 2 (trisomy 8)

Warkany syndrome 2, or simply "Warkany syndrome", is used by some authors when referring to chromosome 8 trisomy syndrome (Trisomy 8),.^[4] Complete trisomy 8 causes severe effects on the developing fetus and is almost always perinatal lethal. Trisomy 8 mosaicism is less severe and individuals with this condition are more likely to survive. Trisomy 8 is associated with a characteristic and recognizable pattern of developmental abnormalities.^[5] The type and severity of symptoms are dependent upon the location and proportion of trisomy 8 cells compared to normal cells.^[6]

References

^ Warkany J (1961). "Intrauterine growth retardation.". Am. J. Dis. Child 102: 249–79. PMID 13783175.

^ Lubs H (1999). "XLMR genes: update 1998.". Am. J. Med. Genet. 83: 237–47. doi:10.1002/(SICI)1096-8628(19990402)83:4<237::AID-AJMG2>3.0.CO;2-8. PMID 10208155.

^ Chiurazzi P (2008). "XLMR genes: update 2007.". Eur. J. Hum. Genet. 16: 422–34. doi:10.1038/sj.ejhg.5201994. PMID 18197188.

^ DDB 32656

^ Riccardi VM (1977). "Trisomy 8: an international study of 70 patients". Birth Defects Orig. Artic. Ser. 13 (3C): 171–84. PMID 890109.

^ Jones, K. L. (2005). Smith's Recognizable Patterns of Human Malformation. (6th ed.). Philadelphia: W. B. Sanders Company.

External links

U.S. National Library of Medicine: Warkany Syndrome 1

U.S. National Library of Medicine: Warkany Syndrome 2

v · d · ePathology: chromosome abnormalities (Q90–Q99 · 758)

Autosomal

Trisomies

Down syndrome (21) · Edwards syndrome (18) · Patau syndrome (13)
Trisomy 9 · Trisomy 8/Warkany syndrome 2 (8) · Trisomy 22/Cat eye syndrome (22) · Trisomy 16

Monosomies/deletions

1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome (1) · Wolf-Hirschhorn syndrome (4) · Cri du chat/Chromosome 5q deletion syndrome (5) · Williams syndrome (7) · Jacobsen syndrome (11) · Miller–Dieker syndrome/Smith–Magenis syndrome (17) · DiGeorge syndrome (22) · 22q13 deletion syndrome (22)
genomic imprinting (Angelman syndrome/Prader–Willi syndrome (15))

Distal 18q-/Proximal 18q-

X/Y linked

Monosomy

Turner syndrome (XO)

Trisomy/tetrasomy,
other karyotypes/mosaics

Klinefelter's syndrome (47,XXY) · 48,XXYY · 48,XXXY · 49,XXXYY · 49,XXXXY

Triple X syndrome (47,XXX) · 48,XXXX · 49,XXXXX

47,XYY · 48,XYYY · 49,XYYYY

46,XX/XY

Translocations

Leukemia/lymphoma

Lymphoid

Burkitt's lymphoma t(8 MYC;14 IGH) · Follicular lymphoma t(14 IGH;18 BCL2) · Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) · Anaplastic large cell lymphoma t(2 ALK;5 NPM1) · Acute lymphoblastic leukemia

Myeloid

Philadelphia chromosome t(9 ABL; 22 BCR) · Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1) · Acute promyelocytic leukemia t(15 PML,17 RARA) · Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)

Other

Ewing's sarcoma t(11 FLI1; 22 EWS) · Synovial sarcoma t(x SYT;18 SSX) · Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB) · Myxoid liposarcoma t(12 DDIT3; 16 FUS) · Desmoplastic small round cell tumor t(11 WT1; 22 EWS) · Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)

Other
Fragile X syndrome · Uniparental disomy · XX male syndrome

Categories:
Syndromes
Chromosomal abnormalities
Rare diseases
Genetic disorder stubs

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Warkany syndrome 2 — Warkany syndrome 2, also known as trisomy 8, is a chromosomal aberration that has severe effects on the fetus. Trisomy is also found in some cases of chronic myeloid leukaemia, potentially as a result of karyotypic instability caused by the… … Wikipedia
Warkany-Syndrom — Als Warkany Syndrom werden zwei Syndrome beschrieben: Als Warkany Syndrom 1 wird ein auf dem X Chromosom gelegener Gendefekt mit rezessivem Erbgang bezeichnet. Als Warkany Syndrom 2 wird die Mosaik Trisomie 8 bezeichnet. Benannt wurden beide… … Deutsch Wikipedia
Syndrome de Warkany — Le syndrome de Warkany, aussi appelé trisomie 9 est une maladie chromosomique congénitale provoquée par la présence d un chromosome surnuméraire pour la 9e paire. Les personnes atteintes de trisomie 9 mosaïque peuvent vivre comme les personnes… … Wikipédia en Français
Down syndrome — Classification and external resources Boy with Down syndrome assembling a … Wikipedia
Joseph Warkany — (1902 1992) was an Austrian American pediatrician known as the father of teratology . [cite journal |author=Willhite C |title=Josef Warkany |journal=Toxicol. Sci. |volume=58 |issue=2 |pages=220–1 |year=2000 |pmid=11099634 |doi=10.1093/toxsci/58.2 … Wikipedia
Fragile X syndrome — Classification and external resources Location of FMR1 gene ICD 10 Q99.2 … Wikipedia
DiGeorge syndrome — 22q11.2 deletion syndrome Classification and external resources Brain computer tomography cuts of t … Wikipedia
XYY syndrome — Not to be confused with XXY (2 X s, Klinefelter s syndrome). XYY syndrome Classification and external resources Y chromosome ICD 10 Q … Wikipedia
Patau syndrome — Classification and external resources Chromosome 13 ICD 10 Q91.4 Q … Wikipedia
Prader–Willi syndrome — Prader Willi syndrome Classification and external resources ICD 10 Q87.1 ICD 9 759.81 … Wikipedia

Academic Dictionaries and Encyclopedias

Warkany syndrome

Contents

Warkany syndrome 1

Warkany syndrome 2 (trisomy 8)

References

External links

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Warkany syndrome

Contents

Warkany syndrome 1

Warkany syndrome 2 (trisomy 8)

References

External links

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