Category:Chromosomal abnormalities: Difference between revisions

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Chromosome abnormalities

Autosomal Trisomies/Tetrasomies * Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome/Trisomy 22 22 Trisomy 16 Monosomies/deletions * (1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome/1p36 deletion syndrome) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome/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) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/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 * Fragile X syndrome Uniparental disomy XX male syndrome/46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6; 9; 14; 15; 18; 20; 21, 22

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Chromosomal_abnormalities

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Subcategories

This category has only the following subcategory.

A

• Autosomal monosomies and deletions (39 P)

Pages in category "Chromosomal abnormalities"

The following 197 pages are in this category, out of 197 total.

1

• 10q26 deletion
• 13q deletion syndrome
• 16p11.2 duplication syndrome
• 18p-
• 1q21.1 copy number variations
• 1q21.1 deletion syndrome
• 1q21.1 duplication syndrome

2

• 2q37 monosomy

4

• 47, XYY syndrome

7

• 7p22.1 microduplication syndrome

8

• 8p23.1 duplication syndrome

A

• Aneuploidy
• ARID1B

B

• Beckwith–Wiedemann syndrome

C

• Chromosomal deletion syndrome
• Chromosome 1 ring
• Chromosome 1, deletion q21 q25
• Chromosome 1, monosomy 1p
• Chromosome 1, monosomy 1p22 p13
• Chromosome 1, monosomy 1p31 p22
• Chromosome 1, monosomy 1p32
• Chromosome 1, monosomy 1p34 p32
• Chromosome 1, monosomy 1q25 q32
• Chromosome 1, monosomy 1q32 q42
• Chromosome 1, monosomy 1q4
• Chromosome 1, trisomy 1q32 qter
• Chromosome 1, trisomy 1q42 qter
• Chromosome 1, uniparental disomy 1q12 q21
• Chromosome 10 ring
• Chromosome 10, monosomy 10p
• Chromosome 10, monosomy 10q
• Chromosome 10, trisomy 10p
• Chromosome 10p deletion
• Chromosome 10p terminal deletion syndrome
• Chromosome 11-14 translocation
• Chromosome 11q deletion
• Chromosome 11q trisomy
• Chromosome 12 ring
• Chromosome 12, 12p trisomy
• Chromosome 12, trisomy 12q
• Chromosome 12p deletion
• Chromosome 13 duplication
• Chromosome 13 ring
• Chromosome 13p duplication
• Chromosome 13q trisomy
• Chromosome 13q-mosaicism
• Chromosome 14 trisomy
• Chromosome 14, trisomy mosaic
• Chromosome 15q partial deletion
• Chromosome 15q, tetrasomy
• Chromosome 17 deletion
• Chromosome 17 ring
• Chromosome 17 trisomy
• Chromosome 17, trisomy 17p
• Chromosome 17, trisomy 17q22
• Chromosome 18 long arm deletion syndrome
• Chromosome 18, deletion 18q23
• Chromosome 19 ring
• Chromosome 19, trisomy 19q
• Chromosome 2, monosomy 2p22
• Chromosome 2, monosomy 2pter p24
• Chromosome 2, monosomy 2q24
• Chromosome 2, trisomy 2p
• Chromosome 2, Trisomy 2p13 p21
• Chromosome 2, trisomy 2pter p24
• Chromosome 2, trisomy 2q
• Chromosome 20 trisomy
• Chromosome 20, deletion 20p
• Chromosome 20, duplication 20p
• Chromosome 20, trisomy
• Chromosome 21 monosomy
• Chromosome 21 ring
• Chromosome 21, monosomy 21q22
• Chromosome 21, tetrasomy 21q
• Chromosome 22, monosome mosaic
• Chromosome 22, trisomy q11 q13
• Chromosome 3 duplication syndrome
• Chromosome 3, monosomy 3p14 p11
• Chromosome 3, monosomy 3p2
• Chromosome 3, monosomy 3p25
• Chromosome 3, monosomy 3q13
• Chromosome 3, monosomy 3q21 23
• Chromosome 3, monosomy 3q27
• Chromosome 3, trisomy 3p
• Chromosome 3, trisomy 3p25
• Chromosome 3, trisomy 3q
• Chromosome 3, trisomy 3q13 2 q25
• Chromosome 3, Trisomy 3q2
• Chromosome 4 ring
• Chromosome 4, monosomy 4p14 p16
• Chromosome 4, monosomy 4q
• Chromosome 4, monosomy 4q32
• Chromosome 4, monosomy distal 4q
• Chromosome 4, Trisomy 4p
• Chromosome 4, trisomy 4q
• Chromosome 4, trisomy 4q21
• Chromosome 4, trisomy 4q25 qter
• Chromosome 5, monosomy 5q35
• Chromosome 5, trisomy 5p
• Chromosome 5, trisomy 5q
• Chromosome 5q deletion syndrome
• Chromosome 6 ring
• Chromosome 6, deletion 6q13 q15
• Chromosome 6, monosomy 6p23
• Chromosome 6, monosomy 6q
• Chromosome 6, monosomy 6q1
• Chromosome 6, monosomy 6q2
• Chromosome 6, trisomy 6p
• Chromosome 6, trisomy 6q
• Chromosome 6q duplication
• Chromosome 7 ring
• Chromosome 7, monosomy
• Chromosome 7, monosomy 7q2
• Chromosome 7, monosomy 7q21
• Chromosome 7, monosomy 7q3
• Chromosome 7, trisomy 7p
• Chromosome 7, trisomy 7p13 p12 2
• Chromosome 7, trisomy 7q
• Chromosome 7, trisomy mosaic
• Chromosome 8 deletion
• Chromosome 8 ring
• Chromosome 8, monosomy 8p
• Chromosome 8, monosomy 8p2
• Chromosome 8, monosomy 8p23 1
• Chromosome 8, monosomy 8q
• Chromosome 9 Ring
• Chromosome 9, duplication 9q21
• Chromosome abnormality
• Chromosome instability syndrome
• Chromothripsis
• Contiguous gene syndrome

D

• Deletion 6q16 q21
• Diploid-triploid mosaicism
• Distal trisomy 10q
• Down
• Down syndrome
• Downs cell

H

• Hypodiploid acute lymphoblastic leukemia

I

• Inversion
• Ischiopatellar dysplasia
• Isochromosome
• Isodicentric 15

K

• Karyotype
• Klinefelter syndrome

M

• Marker chromosome
• Metafemale
• Microdeletion syndrome
• Monosomy
• Monosomy 14
• Monosomy 8q21 q22
• Monosomy 9p
• Mosaic loss of chromosome Y

N

• Nullisomic

P

• Pallister-Killian mosaic syndrome
• Partial monosomy 13q
• Patau syndrome
• Pentasomy X
• Philadelphia chromosome
• Polysomy

R

• Ring chromosome
• Ring chromosome 14 syndrome
• Ring chromosome 15
• Ring chromosome 18
• Robertsonian translocation

S

• Sex chromosome anomalies
• Small supernumerary marker chromosome

T

• Tetrasomy
• Tetrasomy 18p
• Tetrasomy 9p
• Tetrasomy X
• Triploid syndrome
• Trisomy
• Trisomy 1 mosaicism
• Trisomy 11 mosaicism
• Trisomy 12 mosaicism
• Trisomy 14 mosaicism
• Trisomy 16
• Trisomy 18
• Trisomy 22
• Trisomy 3 mosaicism
• Trisomy 8
• Trisomy 8 mosaicism
• Trisomy 9
• Trisomy X

U

• Uniparental disomy

W

• Warkany syndrome

X

• X chromosome, monosomy Xq28
• X chromosome, trisomy Xp3
• X chromosome, trisomy Xq
• X chromosome, trisomy Xq25
• X fragile site folic acid type
• X-linked genetic disease
• Xp11.2 duplication
• XX male syndrome
• XXYY syndrome
• XYY syndrome
• XYYYY syndrome

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Categories:

• Genetic disorders by mechanism
• Chromosomes