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abnormality, such as a deletion or duplication that removes several genes lying in close proximity to one another on the chromosome. The combined phenotype of the patient is a combination of what is seen when any individual has disease-causing mutations in any of the individual genes involved in the
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deletion. While it can be caused by deleted material on a chromosome, it is not, strictly speaking, the same entity as a segmental aneuploidy syndrome. A segmental aneuploidy syndrome is a subtype of CGS that regularly recur, usually due to
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Shaffer, Lisa G.; Ledbetter, David H.; Lupski, James R. (2004). "Molecular
Cytogenetics of Contiguous Gene Syndromes: Mechanisms and Consequences of Gene Dosage Imbalance". In Scriver, C.W.; Beaudet, A.L.; Sly, W.S.; et al. (eds.).
74:. When it was discovered that an X chromosome deletion (specifically Xp21) was the underlying cause of all of these features, researchers were able to use this information to
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of the X chromosome are also a frequent cause of CGS. In addition to the previously described CGS that occur on the X chromosome, two other common syndromes are
107:). These patients will have all the common features of each individual disease, resulting in a very complex phenotype. Deletions near the distal tip of the
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One of those more common CGS involves a deletion on the X chromosome (near Xp21) that encompasses
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Combined clinical phenotype caused by each gene involved in a chromosomal abnormality
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One of the earliest and most famous examples of a CGS involves a male patient with
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between low copy repeats in the region. Most CGS involve the
177:(4th ed.). New York: Garland Science. pp. 427–428.
194:Metabolic and Molecular Bases of Inherited Disease
8:
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87:(causing Duchenne muscular dystrophy),
78:the genes responsible for DMD and CGD.
196:(8th ed.). New York: McGraw Hill.
95:X-linked adrenal hypoplasia congenita
7:
49:non-allelic homologous recombination
25:
36:contiguous gene deletion syndrome
1:
173:Strachan, Tom; Read, Andrew.
64:chronic granulomatous disease
55:and affect male individuals.
60:Duchenne muscular dystrophy
235:
105:glycerol kinase deficiency
219:Chromosomal abnormalities
18:Contiguous gene syndromes
175:Human Molecular Genetics
135:(caused by deletions on
115:(caused by deletions of
32:contiguous gene syndrome
113:Langer–Giedion syndrome
72:intellectual disability
34:(CGS), also known as a
68:retinitis pigmentosa
214:Genetic syndromes
16:(Redirected from
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139:encompassing
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133:WAGR syndrome
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53:X chromosome
42:caused by a
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44:chromosomal
208:Categories
155:References
103:(causing
93:(causing
40:phenotype
66:(CGD),
62:(DMD),
97:) and
137:11q13
118:TRPS1
109:p arm
90:NROB1
76:clone
145:and
142:PAX6
131:and
129:8q24
124:EXT1
121:and
70:and
151:.)
148:WT1
127:on
84:DMD
210::
183:^
163:^
100:GK
30:A
20:)
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