| D007223 |
Infant |
A child between 1 and 23 months of age. |
Infants |
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| D007621 |
Karyotyping |
Mapping of the KARYOTYPE of a cell. |
Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis |
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| D008297 |
Male |
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Males |
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| D004303 |
Dosage Compensation, Genetic |
Genetic mechanisms that allow GENES to be expressed at a similar level irrespective of their GENE DOSAGE. This term is usually used in discussing genes that lie on the SEX CHROMOSOMES. Because the sex chromosomes are only partially homologous, there is a different copy number, i.e., dosage, of these genes in males vs. females. In DROSOPHILA, dosage compensation is accomplished by hypertranscription of genes located on the X CHROMOSOME. In mammals, dosage compensation of X chromosome genes is accomplished by random X CHROMOSOME INACTIVATION of one of the two X chromosomes in the female. |
Dosage Compensation (Genetics),Gene Dosage Compensation,Hypertranscription, X-Chromosome,X-Chromosome Hypertranscription,Compensation, Dosage (Genetics),Compensation, Gene Dosage,Compensation, Genetic Dosage,Dosage Compensation, Gene,Gene Dosage Compensations,Genetic Dosage Compensation,Genetic Dosage Compensations,Hypertranscription, X Chromosome,X Chromosome Hypertranscription |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D015518 |
Rett Syndrome |
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199) |
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome,Cerebroatrophic Hyperammonemia,Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use,Rett Disorder,Rett's Disorder,Rett's Syndrome,Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome,Cerebroatrophic Hyperammonemias,Hyperammonemia, Cerebroatrophic,Hyperammonemias, Cerebroatrophic,Retts Syndrome,Syndrome, Rett,Syndrome, Rett's |
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