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Chromosome Disorders

More information in Books or onNLM PubMed
Definition: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)  GEN or unspecified; prefer specifics; coord IM with specific numbered chromosome (IM)   
See Also Cytogenetics; Genetics, Medical
Examples 22q11 Deletion Syndrome; Angelman Syndrome; Beckwith-Wiedemann Syndrome; Branchio-Oto-Renal Syndrome; Cri-du-Chat Syndrome; De Lange Syndrome; Down Syndrome; Holoprosencephaly; Jacobsen Distal 11q Deletion Syndrome; Prader-Willi Syndrome; Rubinstein-Taybi Syndrome; Sex Chromosome Disorders; Silver-Russell Syndrome; Smith-Magenis Syndrome; Sotos Syndrome; WAGR Syndrome; Williams Syndrome; Wolf-Hirschhorn Syndrome 		Other names Disorders, Chromosome; Disorders, Chromosomal; Disorder, Chromosome Abnormality; Disorder, Chromosome; Disorder, Chromosomal; Chromosome Disorders, Autosomal; Chromosome Disorder, Autosomal; Chromosome Disorder; Chromosome Abnormality Disorder; Chromosomal Disorder; Autosomal Chromosome Disorder; Chromosomal Disorders; Chromosome Abnormality Disorders; Autosomal Chromosome Disorders
 
SubstanceCAS Registry & nameCategoriesSource
Potocki-Shaffer syndrome  0   *Chromosome Deletion *Chromosome Disorders Chromosomes, Human, Pair 11.
Chromosome 18p deletion syndrome  0   *Chromosome Deletion *Chromosome Disorders Chromosomes, Human, Pair 18.
10p Deletion Syndrome (Partial)  0   *Chromosome Deletion *Chromosome Disorders Chromosomes, Human, Pair 10.
Pallister Killian syndrome  0   *Chromosome Disorders Chromosomes, Human, Pair 12.
Distal Trisomy 10q Syndrome  0   *Trisomy *Chromosome Disorders Chromosomes, Human, Pair 10.
Partial Duplication 15q Syndrome  0   *Trisomy *Chromosome Disorders Chromosomes, Human, Pair 15.
7p2 monosomy syndrome  0   *Chromosome Deletion *Chromosome Disorders Chromosomes, Human, Pair 7.
Chromosome 7 ring syndrome  0   *Ring Chromosomes *Chromosome Disorders Chromosomes, Human, Pair 7.
6q+ Syndrome, Partial  0   *Trisomy *Chromosome Disorders Chromosomes, Human, Pair 6.
Chromosome 10q duplication syndrome  0   *Trisomy *Chromosome Disorders Chromosomes, Human, Pair 10.
Chromosome 6 ring syndrome  0   *Ring Chromosomes *Chromosome Disorders Chromosomes, Human, Pair 6.
Duplication 4p Syndrome  0   *Trisomy *Chromosome Disorders Chromosomes, Human, Pair 4.
Chromosome 4, 4q Terminal Deletion Syndrome  0   *Chromosome Deletion *Chromosome Disorders Chromosomes, Human, Pair 4.
Chromosome 4q- Syndrome  0   *Chromosome Deletion *Chromosome Disorders Chromosomes, Human, Pair 4.
Ring chromosome 4 syndrome  0   *Ring Chromosomes *Chromosome Disorders Chromosomes, Human, Pair 4.
Partial Trisomy 3q Syndrome  0   *Trisomy *Chromosome Disorders Chromosomes, Human, Pair 3.
Mosaic variegated aneuploidy syndrome  0   *Chromosome Disorders Mosaicism.
Chromosome 3 duplication syndrome  0   *Trisomy *Chromosome Disorders Chromosomes, Human, Pair 3.
Chromosome 2q37 deletion syndrome  0   *Brachydactyly *Chromosome Deletion *Fibrous Dysplasia, Polyostotic *Intellectual Disability *Chromosome Disorders Chromosomes, Human, Pair 2.
Telomeric 22q13 monosomy syndrome  0   *Chromosome Deletion *Chromosome Disorders Chromosomes, Human, Pair 22.
Chromosome 22, monosome mosaic  0   *Chromosome Disorders Chromosomes, Human, Pair 22 Mosaicism.
Trisomy 22 mosaicism syndrome  0   *Trisomy *Uniparental Disomy *Chromosome Disorders Chromosomes, Human, Pair 22 Mosaicism.
Warburton Anyane Yeboa syndrome  0   *Intellectual Disability *Microcephaly *Trisomy *Chromosome Disorders Mosaicism.
Chromosome 18 deletion syndrome  0   *Chromosome Deletion *Chromosome Disorders Chromosomes, Human, Pair 18.
Thrombocytopenia chromosome breakage  0   *Thrombocytopenia/congenital *Chromosome Breakage *Chromosome Disorders.
Patau syndrome  0   *Trisomy *Chromosome Disorders Chromosomes, Human, Pair 13.
Schmid-Fraccaro syndrome  0   *Aneuploidy *Chromosome Disorders Chromosomes, Human, Pair 22.
Stargardt disease 3  0   *Corneal Dystrophies, Hereditary *Chromosome Disorders Chromosomes, Human, Pair 6.
Emanuel syndrome  0   *Cleft Palate *Heart Defects, Congenital *Intellectual Disability *Muscle Hypotonia *Chromosome Disorders.
Chromosome 13q-mosaicism  0   *Chromosome Disorders Chromosomes, Human, Pair 13 Mosaicism.
13q deletion syndrome  0   *Chromosome Deletion *Chromosome Disorders Chromosomes, Human, Pair 13.
Deletion 13q syndrome, partial  0   *Chromosome Deletion *Chromosome Disorders Chromosomes, Human, Pair 13.
Chromosome 1, 1p36 deletion syndrome  0   *Chromosome Deletion *Chromosome Disorders Chromosomes, Human, Pair 1.
Recombinant chromosome 8 syndrome  0   *Chromosome Disorders Chromosomes, Human, Pair 8.

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