Monosomy 9p

Monosomy 9p
Classification and external resources
OMIM	158170

Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of chromosome 9. Symptoms include microgenitalia, mental retardation with microcephaly and dysmorphic features.

The location has recently been narrowed to 9p22.2-p23.^[1]

References

↑ Kawara H, Yamamoto T, Harada N, et al. (February 2006). "Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23". Am. J. Med. Genet. A 140 (4): 373–7. doi:10.1002/ajmg.a.31094. PMID 16419130.

External links

Support group

Chromosome abnormalities (Q90–Q99, 758)

Autosomal

Trisomies	Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Warkany syndrome 2 8 Cat eye syndrome/Trisomy 22 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 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome/Prader–Willi syndrome (15) Distal 18q-/Proximal 18q-

X/Y linked

Monosomy	Turner syndrome (45,X)

Trisomy/tetrasomy, other karyotypes/mosaics	Klinefelter 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 45,X/46,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

Discovered by Omar Alfi.

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