At a Glance
Congenital chromosomal disease;
10q partial trisomy;
11q partial monosomy syndrome
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Congenital chromosomal disease
10q partial trisomy
11q partial monosomy syndrome
13q partial monosomy syndrome
3q partial trisomy syndrome
4p partial monosomy syndrome
5p partial monosomy syndrome
6q partial trisomy syndrome
8p inverted duplication/deletion syndrome
9p partial trisomy syndrome
Aneuploidy, chromosomal rearrangements, chromosomal deletion, chromosomal duplication
Anomaly of sex chromosome
Atypical Norrie disease due to monosomy Xp11.3
Autosomal chromosomal disorder
Autosomal monosomy
Autosomal trisomy
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Chromosome 1, deletion q21 q25
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, trisomy 1q32 qter
Chromosome 1, trisomy 1q42-qter
Chromosome 1p36 deletion syndrome
Chromosome 1q deletion
Chromosome 2, monosomy 2p22
Chromosome 2, monosomy 2pter p24
Chromosome 3, monosomy 3p
Chromosome 3, monosomy 3p14 p11
Chromosome 3, monosomy 3q13
Chromosome 3, monosomy 3q21 23
Chromosome 3, monosomy 3q27
Chromosome 3, trisomy 3p
Chromosome 3, trisomy 3q13 2 q25
Chromosome 3pter-p25 deletion syndrome
Chromosome 4 short arm deletion
Chromosome 4, Trisomy 4p
Chromosome 4, monosomy 4p14 p16
Chromosome 4, monosomy 4q32
Chromosome 4, monosomy distal 4q
Chromosome 4, partial trisomy distal 4q
Chromosome 4, trisomy 4q25 qter
Chromosome 5, trisomy 5p
Chromosome 5, trisomy 5pter p13 3
Chromosome 5q deletion syndrome
Chromosome 6, deletion 6q13 q15
Chromosome 6, monosomy 6q1
Chromosome 6, monosomy 6q2
Chromosome 6pter-p24 deletion syndrome
Chromosome 6q11-q14 deletion syndrome
Chromosome 6q24-q25 deletion syndrome
Chromosome 7, monosomy
Chromosome 7, monosomy 7q2
Chromosome 7, monosomy 7q21
Chromosome 7, monosomy 7q3
Chromosome 7, partial monosomy 7p
Chromosome 8 deletion
Chromosome 8, monosomy 8p
Chromosome 8, monosomy 8p2
Chromosome 8, mosaic trisomy
Chromosome 8, partial trisomy
Chromosome 8-derived supernumerary ring/marker
Chromosome 8Q12.1-q21.2 deletion syndrome
Chromosome 9 translocation
Chromosome 9, trisomy 9p
Chromosome 9, trisomy 9q
Chromosome 9p deletion syndrome
Chromosome 10, distal trisomy 10q
Chromosome 10, trisomy 10pter p13
Chromosome 11, deletion 11p
Chromosome 11, partial trisomy 11q
Chromosome 11;14 translocation
Chromosome 11p, partial deletion
Chromosome 11q trisomy
Chromosome 12p deletion
Chromosome 13, partial monosomy 13q
Chromosome 13q deletion
Chromosome 13q trisomy
Chromosome 14 deletion
Chromosome 14 trisomy
Chromosome 14, deletion 14q, partial duplication 14p
Chromosome 14;16 translocation
Chromosome 14q, partial deletions
Chromosome 15, distal trisomy 15q
Chromosome 15q, partial deletion
Chromosome 15q26-qter deletion syndrome
Chromosome 16 trisomy
Chromosome 17p deletion
Chromosome 18 mosaic monosomy
Chromosome 18 pericentric inversion
Chromosome 19 ring syndrome
Chromosome 21, monosomy 21q22
Chromosome 22, trisomy q11 q13
Chromosome 22q deletion
Chromosomes 1 and 2, monosomy 2q duplication 1p
Complete trisomy 13 syndrome
Complete trisomy 18 syndrome
Complete trisomy 20 syndrome
Complete trisomy 21 syndrome
Deletion 6q16 q21
Deletion of long arm of chromosome 18
Deletion of short arm of chromosome 18
Distal monosomy 12p
Distal monosomy 12q
Distal monosomy 14q
Distal monosomy 17q
Distal monosomy 19p13.3
Distal monosomy 1q
Distal monosomy 20q
Distal monosomy 4q
Distal monosomy 7p
Distal monosomy 7q36
Distal monosomy 9p
Distal trisomy 10q
Distal trisomy 11q
Distal trisomy 13q
Distal trisomy 14q
Distal trisomy 15q
Distal trisomy 16q
Distal trisomy 17q
Distal trisomy 18q
Distal trisomy 19q
Distal trisomy 1p36
Distal trisomy 20q
Distal trisomy 22q
Distal trisomy 2p
Distal trisomy 2q
Distal trisomy 3p
Distal trisomy 4q
Distal trisomy 5q
Distal trisomy 6p
Distal trisomy 6q
Distal trisomy 7p
Distal trisomy 8q
Distal trisomy 9q
Familial monosomy 7 syndrome
Monosomy
Monosomy 13q34
Monosomy 21
Monosomy 22
Monosomy 8q12 21
Monosomy 8q21 q22
Monosomy X
Mosaic trisomy 1
Mosaic trisomy 10
Mosaic trisomy 12
Mosaic trisomy 14
Mosaic trisomy 15
Mosaic trisomy 17
Mosaic trisomy 2
Mosaic trisomy 20
Mosaic trisomy 22
Mosaic trisomy 3
Mosaic trisomy 4
Mosaic trisomy 5
Mosaic trisomy 7
Mosaic trisomy 8
Mosaic trisomy 9
Mosaic variegated aneuploidy syndrome
Non-distal monosomy 10q
Non-distal monosomy 12q
Non-distal monosomy 20q
Non-distal trisomy 10q
Non-distal trisomy 13q
Non-distal trisomy 9q
Partial autosomal monosomy
Partial autosomal trisomy/tetrasomy
Partial chromosome Y deletion
Partial deletion of Y
Partial deletion of chromosome 1
Partial deletion of chromosome 2
Partial deletion of chromosome 3
Partial deletion of chromosome 4
Partial deletion of chromosome 5
Partial deletion of chromosome 6
Partial deletion of chromosome 7
Partial deletion of chromosome 8
Partial deletion of chromosome 9
Partial deletion of chromosome 10
Partial deletion of chromosome 11
Partial deletion of chromosome 12
Partial deletion of chromosome 16
Partial deletion of chromosome 17
Partial deletion of chromosome 18
Partial deletion of chromosome 19
Partial deletion of chromosome 20
Partial deletion of chromosome X
Partial deletion of the long arm of chromosome 1
Partial deletion of the long arm of chromosome 2
Partial deletion of the long arm of chromosome 3
Partial deletion of the long arm of chromosome 4
Partial deletion of the long arm of chromosome 5
Partial deletion of the long arm of chromosome 6
Partial deletion of the long arm of chromosome 7
Partial deletion of the long arm of chromosome 8
Partial deletion of the long arm of chromosome 11
Partial deletion of the long arm of chromosome 12
Partial deletion of the long arm of chromosome 14
Partial deletion of the long arm of chromosome 15
Partial deletion of the long arm of chromosome 16
Partial deletion of the long arm of chromosome 17
Partial deletion of the long arm of chromosome 18
Partial deletion of the long arm of chromosome 19
Partial deletion of the long arm of chromosome 20
Partial deletion of the long arm of chromosome 21
Partial deletion of the long arm of chromosome 22
Partial deletion of the long arm of chromosome X
Partial deletion of the short arm of chromosome 1
Partial deletion of the short arm of chromosome 2
Partial deletion of the short arm of chromosome 3
Partial deletion of the short arm of chromosome 4
Partial deletion of the short arm of chromosome 5
Partial deletion of the short arm of chromosome 6
Partial deletion of the short arm of chromosome 7
Partial deletion of the short arm of chromosome 8
Partial deletion of the short arm of chromosome 9
Partial deletion of the short arm of chromosome 10
Partial deletion of the short arm of chromosome 11
Partial deletion of the short arm of chromosome 12
Partial deletion of the short arm of chromosome 16
Partial deletion of the short arm of chromosome 18
Partial deletion of the short arm of chromosome 19
Partial duplication of chromosome 1
Partial duplication of chromosome 2
Partial duplication of chromosome 3
Partial duplication of chromosome 4
Partial duplication of chromosome 6
Partial duplication of chromosome 7
Partial duplication of chromosome 8
Partial duplication of chromosome 10
Partial duplication of chromosome 11
Partial duplication of chromosome 16
Partial duplication of chromosome 17
Partial duplication of chromosome 19
Partial duplication of chromosome X
Partial duplication of the long arm of chromosome 1
Partial duplication of the long arm of chromosome 2
Partial duplication of the long arm of chromosome 3
Partial duplication of the long arm of chromosome 4
Partial duplication of the long arm of chromosome 6
Partial duplication of the long arm of chromosome 7
Partial duplication of the long arm of chromosome 8
Partial duplication of the long arm of chromosome 10
Partial duplication of the long arm of chromosome 11
Partial duplication of the long arm of chromosome 12
Partial duplication of the long arm of chromosome 13
Partial duplication of the long arm of chromosome 14
Partial duplication of the long arm of chromosome 15
Partial duplication of the long arm of chromosome 17
Partial duplication of the long arm of chromosome 19
Partial duplication of the long arm of chromosome 22
Partial duplication of the long arm of chromosome X
Partial duplication of the short arm of chromosome 1
Partial duplication of the short arm of chromosome 2
Partial duplication of the short arm of chromosome 3
Partial duplication of the short arm of chromosome 4
Partial duplication of the short arm of chromosome 6
Partial duplication of the short arm of chromosome 7
Partial duplication of the short arm of chromosome 8
Partial duplication of the short arm of chromosome 10
Partial duplication of the short arm of chromosome 11
Partial duplication of the short arm of chromosome 16
Partial duplication of the short arm of chromosome 17
Partial duplication of the short arm of chromosome 19
Partial duplication of the short arm of chromosome X
Partial monosomy of the long arm of chromosome 9
Partial monosomy of the long arm of chromosome 10
Partial monosomy of the short arm of chromosome 17
Partial monosomy of the short arm of chromosome 20
Partial monosomy of the short arm of chromosome X
Partial trisomy of chromosome 20
Partial trisomy of the long arm of chromosome 5
Partial trisomy of the long arm of chromosome 9
Partial trisomy of the long arm of chromosome 16
Partial trisomy of the long arm of chromosome 18
Partial trisomy of the long arm of chromosome 20
Partial trisomy of the short arm of chromosome 9
Partial trisomy/tetrasomy of chromosome 5
Partial trisomy/tetrasomy of chromosome 9
Partial trisomy/tetrasomy of chromosome 18
Partial trisomy/tetrasomy of the short arm of chromosome 5
Partial trisomy/tetrasomy of the short arm of chromosome 12
Partial trisomy/tetrasomy of the short arm of chromosome 18
Prader-Willi syndrome due to translocation
Ring chromosome
Ring chromosome 1
Ring chromosome 2
Ring chromosome 3
Ring chromosome 4 syndrome
Ring chromosome 5
Ring chromosome 6
Ring chromosome 7
Ring chromosome 9
Ring chromosome 10
Ring chromosome 11
Ring chromosome 12
Ring chromosome 13
Ring chromosome 14
Ring chromosome 14 syndrome
Ring chromosome 15
Ring chromosome 16
Ring chromosome 17
Ring chromosome 18
Ring chromosome 19
Ring chromosome 20 syndrome
Ring chromosome 21
Ring chromosome 22
Ring chromosome Y
Tetraploidy syndrome
Total autosomal monosomy
Total autosomal trisomy
Triploidy
Trisomy
Trisomy 10p
Trisomy 11 mosaicism
Trisomy 12p
Trisomy 17p
Trisomy 18p
Trisomy 1q
Trisomy 20p
Trisomy 22
Trisomy 4p
Trisomy 5p
Trisomy 6
Trisomy 8
Trisomy 8p
Trisomy 8q
Trisomy 9
Trisomy X syndrome
X chromosome deletion/duplication
X chromosome, duplication Xq13 1 q21 1
X chromosome, monosomy Xq28
X chromosome, trisomy Xp3
X chromosome, trisomy Xpter Xq13
X small rings
Y chromosome deletions
Conditions
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Total conditions: 339
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
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