Home > Chromosome Super Powers

We have people in our group that have a wide range of experience with many different Chromosomal abnormalities.

You can also obtain more information from UNIQUE , Genetic Alliance or CDO websites. If you would like to make contact with any family who has a similar chromosome anomaly then please complete a Membership Form and we can put you in touch.

DELETIONS
Q arm
1q21.1micro duplication
1q21.1 microdeletion.
1p 21.2 to 31.2 deletion
1q21.1 microdeletion
1q31.1
1q43,44 deletion
1q 43-44 deletion
P arm
1p36.33 deletion
1p36.22 deletion
1p36 deletion
1p36.33p36.23 deletion
1p36 deletion
DUPLICATIONS
Q Arm
1q 21.1
1q21.1 microduplication
1q25.1
1q21.1
1q32.2 dup
1q43
DELETIONS
Q Arm
2q14 to 2q14.3.
2q23.1 deletion (autism, global developmental delays and epilepsy
2q24.2-32.2 deletion
2q37.3 deletion
Duplication at 2q37.3 of 2.3 mb and a deletion2q37.3 of 2.4 mb
P Arm
2p16.3 deletion
DUPLICATIONS
Q Arm
2q37.3 duplication
DELETIONS
P Arm
3p21 Microduplication
3 p26.3-p26.2 Deletion
DUPLICATIONS
Q Arm
3q29 duplication
P Arm
3p26.3 duplication
DELETIONS
Q Arm
P Arm
DUPLICATIONS
P Arm
4p15.1 to 4pter dup
4 p16.3-p16.1 Duplication
4q35.1 (305kb) inserted into band Xq27-28
Trisomy 4p / unbalanced translocation (dup4p / del22p)
DELETIONS
Q Arm
5q14.3
Mef2c & 5q14.3 deletion
46xy(del5)(q33.3q34)
P Arm
5p15.31 DEL(2.8mb),5p15.2 DUP(1.6mb),5p15.1 to 5p14.3DEL(4.9mb)
5 – 5P-/Cri du Chat – terminal deletion from 5p15.3
5 – 5p-/Cri du Chat Syndrome – mosiac form of the syndrome.
Cornelia de Lange Syndrome(A gene responsible for CdLS on Chromosome 5)
5q33.2-35.1 and 22q11 deletions
DUPLICATIONS
5p13.1p14.1 & 5q11.1q11.2
5p14p14.2
DELETIONS
Q Arm
6q16.3 Micro deletion GRIK2 Chromosome 6
6p23-22.3 deletion.
6p22.3 deletion
6q23-25 deletion
6q 25.3-6qter
6q 25.3-6qter
6q 25.3
6q26-q27
6q26-6q27
6q27 deletion
P Arm
deletion and unbalanced translocation of 6p & 13q
6p deletion: Molecular Karyotype: arr6p21.33p21.32(31,553,661-32,055,777)x1 6p21.32(32,159,184-32,703,025)x1
DUPLICATIONS
DELETIONS
Q Arm
P Arm
7q21.3q22.1( CG-11-05563)
7q Microdeletion
46XY del (7)(q34q36.3).ish
DUPLCATIONS
Q Arm
Duplications of 7q11 & 7q12,
13q34 with duplication 7p21.2 & dandy-walker syndrome and partial absence of the corpus colosum
7q22.2 – 7q31.33
P Arm
micro duplication 7p
DELETIONS
Q Arm
8q12.2 del Charge Syndrome
P Arm
8p23.1 deletion
DELETIONS
Q Arm
deletion 9q33.1-33.2
P Arm
deletion 9p24
DUPLICATIONS
P Arm
Tetrasomy 9p
Partial Trisomy 9
dup 9p
Ring 10 Chromosome r10 (p15.2 q26.2), der (10) del(10) (p15.2) del (10) (q26.2)
DELETIONS
Q Arm
Interstitial Deletion of 298Kb at 10q21.3-q21.3
del 10q26.3qter and dup 10q26.13q26.3
del 10q26.11
P Arm
deletion on 10p13
DUPLICATIONS
duplication of chromosome 10
DELETIONS
Q Arm
11q- Jacosbsen’s syndrome and trisomy 9p
11q- Jacobsen Syndrome
P Arm
DUPLICATIONS
Q Arm
11q14.2
11q23.3 triplication
Beckwith-Wiedemann Syndrome
“Methylation of 11p15.5 with loss of Methylation at the KvDMR imprinting domain Beckwith Wiedemann Syndrome”
P Arm
DELETIONS
Q Arm
12q12 deletion
12q Deletion (12q21.2q21.31)
DUPLICATIONS
P Arm
Tetrasomy 12p Pallister-Killian Syndrome:
DELETIONS
Q Arm
unbalanced translocation 1q32.2 dup/13q34 del
deletion 13q34 with duplication 7p21.2 also has dandy-walker syndrome and partial absence of the corpus colosum newcastle aus
DUPLICATIONS
Trisomy 13 mosaic
Ring 14 Syndrome
DELETIONS
Q Arm
14q21.3 deletion
14q31.2-32.33 deletion
14q32 deletion
14q32 deletion
DUPLICATIONS
DELETIONS
Q Arm
15q11-13 deletion
Angelman Syndrome 15q11-q13 deletion
15q11.2 deletion + Xq22.3 deletion + 17p13.3 microdeletion)
del 15q13.3 (parts of 13.2 & 13.3)
microdeletion 15q13.2q13.3
15q13.3 Microdeletion Syndrome
15q13.3 microdeletion (parent + plus 2 children) Microdeletion 15Q13.3 & Global Development Delays, Microdeletion 15Q13.3 & Autism (severe) / GDD.
Micro deletion 15q15.2q21.3
DUPLICATIONS
Isodicentric 15
Q Arm
idic15(triplication 15.q11.2q13.2 and duplication15q13.2q13.3)
15q13.2q13.3 x3
15q21.2-q21.3 duplication
15q25.1
Marfans syndrome mutation of the FBN1gene
Family with – Ring 16p11.2-16q12.1
DELETIONS
Q Arm
16q22.3-q24.1 deletion
16q24.3 Deletion
16q24.3 deletion
P Arm
16p12.2-13.11 deletion
16p11.2 deletions
16.P.13.11
DUPLICATIONS
Q Arm
16q24
P Arm
16p11.2 duplication
DELETIONS
Q Arm
17 (17q11.2)
17q21.31 microdeletion
P Arm
17p11 deletion
Deletion 17p 11.2-12.2
17p13.3 microdeletion
DUPLICATIONS
17q24.3-25.3
17q 25.3 Duplication
DELETIONS
Q Arm
18q23 deletion
18q21.33q23
P Arm
18p deletion
DUPLICATIONS
Q & P
Tetrasomy 18p
Trisomy 18 mosaic(77%)
DELETIONS
19p13.2 deletion,
19p13.3 deletion including MAP2K2 causing cardio-facio-cutaneous syndrome (CFC Syndrome)
Deletion Chromosome 19p12-
DUPLICATIONS
Duplication19q13.43(Tasmania)
DELETIONS
20q13.33
DUPLICATIONS
20p13 duplication
mosaic monosomy ring 21 with 21q deletion
DELETIONS
del22p
22q13.31 to 22qter del
22q11.del
DUPLICATIONS
22q13 duplication
microduplication 22q13
22q11.2 Duplication
DELETIONS
Xq22.3 deletion
Xp22.31 deletion
DUPLICATIONS
Duplication Xp22.31
Xp22.31
Pentasomy X mosaicism (50% XXXXX, 16% XXXX, 16% XXX, 18% XX)
XP22.31 including 4 genes: HDHD1A – STS – VCX – PNPLA4
49xxxxy syndrome
xp22.31 duplication
Xq duplication. Karotype 46, X, dup (X) q22.3q26.1)
xx sry translocation.
47 XYY.
Other:
Level 5 Cerebral Palsy
cerebral palsy diplegia
Primary Intestinal Lymphangiectasia (PIL) with Protein Losing Enteropathy (PLE)
ASD
unspecified Leukodystrophy.
Treacher Collins Syndrome and a tracheostomy
http://en.wikipedia.org/wiki/Y_chromosome
http://en.wikipedia.org/wiki/Pseudoautosomal_region