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Chromosome 7q11.23 Deletion Syndrome -- See Williams Syndrome


A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy 		  1
 

Chromosome 21 -- See Chromosomes, Human, Pair 21


A specific pair of GROUP G CHROMOSOMES of the human chromosome classification 		  1
 

Chromosome Aberration -- See Chromosome Aberrations


Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS 		  1
 

Chromosome Aberration, Sex -- See Sex Chromosome Aberrations


Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT 		  1
  Chromosome Aberrations -- 2 Related Subjects   2
Chromosome Aberrations.   32
Chromosome Aberrations -- diagnosis   2
Chromosome Aberrations -- genetics : Genome stability and human diseases / Heinz Peter Nasheuer, editor  2010 1
 

Chromosome Aberrations, Sex -- See Sex Chromosome Aberrations


Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT 		  1
  Chromosome Abnormalities -- 4 Related Subjects   4
Chromosome abnormalities.   20
Chromosome abnormalities -- Congresses. : DNA repair, chromosome alterations, and chromatin structure : proceedings of an international meeting held at Noordwijkerhout, The Netherlands, 23-25 April 1981 / edited by A.T. Natarajan, G. Obe, and H. Altmann  1982 1
Chromosome abnormalities -- Diagnosis. : Nuchal translucency measurement in the first trimester of pregnancy for screening of trisomy 21 and other autosomal trisomes : assessment report / Medical Services Advisory Committee  2003 1
Chromosome abnormalities -- Laboratory manuals : Mutation detection : a practical approach / edited by R.G.H. Cotton, E. Edkins, and S. Forrest  1998 1
 

Chromosome Abnormalities, Sex -- See Sex Chromosome Aberrations


Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT 		  1
Chromosome abnormalities -- Testing. : Mammalian bone marrow chromosomal aberration test  2014 1
 

Chromosome Abnormality -- See Chromosome Aberrations


Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS 		  1
 

Chromosome Abnormality Disorder -- See Chromosome Disorders


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) 		  1
 

Chromosome Abnormality Disorders -- See Chromosome Disorders


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) 		  1
 

Chromosome Abnormality, Sex -- See Sex Chromosome Aberrations


Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT 		  1
 

Chromosome anomalies -- See Chromosome abnormalities


  1
 

Chromosome, Bacterial -- See Chromosomes, Bacterial


Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell 		  1
 

Chromosome Disorder -- See Chromosome Disorders


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) 		  1
 

Chromosome Disorder, Autosomal -- See Chromosome Disorders


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) 		  1
 

Chromosome Disorder, Sex -- See Sex Chromosome Disorders


Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment) 		  1
  Chromosome Disorders -- 2 Related Subjects   2
Chromosome Disorders   3
 

Chromosome Disorders, Autosomal -- See Chromosome Disorders


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) 		  1
Chromosome Disorders -- diagnosis   3
Chromosome Disorders -- etiology : Chromosomal alterations : methods, results, and importance in human health / Günter Obe, Vijayalaxmi, (editors)  2007 1
Chromosome Disorders -- genetics   3
 

Chromosome Disorders, Sex -- See Sex Chromosome Disorders


Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment) 		  1
Chromosome Disorders -- therapy : Outcomes in neurodevelopmental and genetic disorders / edited by Patricia Howlin and Orlee Udwin  2002 1
  Chromosome Duplication -- 2 Related Subjects   2
 

Chromosome Fragile Site -- See Chromosome Fragile Sites


Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.) 		  1
  Chromosome Fragile Sites -- 2 Related Subjects   2
Chromosome Fragile Sites.   2
Chromosome Fragile Sites -- genetics : The carriers : what the fragile X gene reveals about family, heredity, and scientific discovery / Anne Skomorowsky ; foreword by Randi J. Hagerman  2022 1
  Chromosome Fragility -- 3 Related Subjects   3
Chromosome Fragility : Fragile X-associated tremor ataxia syndrome (FXTAS) / edited by Flora Tassone, Elizabeth M. Berry-Kravis  2010 1
 

Chromosome, Fungal -- See Chromosomes, Fungal


Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell 		  1
 

Chromosome, Human -- See Chromosomes, Human


Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual 		  1
 

Chromosome, Human Y -- See Chromosomes, Human, Y


The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans 		  1
 

Chromosome Inactivation, X -- See X Chromosome Inactivation


A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females 		  1
 

Chromosome Instabilities -- See Chromosomal Instability


An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional 		  1
 

Chromosome Instability -- See Chromosomal Instability


An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional 		  1
 

Chromosome Instability Syndrome -- See DNA Repair-Deficiency Disorders


Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE 		  1
 

Chromosome Instability Syndromes -- See DNA Repair-Deficiency Disorders


Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE 		  1
 

Chromosome Inversions -- See Chromosome Inversion


An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome 		  1
 

Chromosome, Mammalian -- See Chromosomes, Mammalian


Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS 		  1
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