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5 days ago · First described by Thomas Bartholin in 1657, but recognized as a clinical syndrome when the trisomy etiology was discovered by Klaus Patau in 1960. Incidence 1:4,000 to 1:10,000 live births.
1 day ago · Clinically characterized at birth or later by the association of delayed growth and mental development, craniofacial anomalies, musculoskeletal abnormalities, imperforate anus, cryptorchidism, and congenital heart defects. Synonyms. 11q+ Syndrome; 11q Duplication Syndrome; Chromosome 11q Trisomy Duplication. Incidence.
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5 days ago · Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features. [1] [12] There are three types of Down syndrome, the ...
- Third copy of chromosome 21
- Mostly at conception, rarely after fertilization
5 days ago · Ninety percent of individuals with Down syndrome have three full copies of chromosome 21. Three to 4% have an unbalanced translocation, and 1% have mosaicism. Prevalence in the United States is 13.65 per 10,000 livebirths. Fetuses with Down syndrome are more likely to die in utero than normal fetuses. Karyotype analysis is diagnostic.
Syndrome: A recognizable pattern of signs or symptoms that “run together.” Typically differs from association in that a molecular cause has been elucidated. Examples include Turner, Marfan, and CHARGE syndromes (previously charge was an association prior to discovery of a causative gene).
5 days ago · Integrated Screening Test. This test is done in two parts, spanning both the first and the second trimester. The results are put together to estimate your risk of a baby with Down syndrome. This test has a lower rate of false-positives. First Trimester: A blood test for measuring PAPP-A and an ultrasound for nuchal translucency are used.
4 days ago · Angelman syndrome. Bardet-Biedel syndrome. CHARGE syndrome. Cleft lip with or without cleft palate. Club foot. Congenital heart disease (know the types associated with common syndromes) Craniofrontonasal dysplasia. Ectodermal dysplasia. Gorlin syndrome. Holoprosencephaly. Joubert syndrome. Kabuki syndrome. Kartegener syndrome. McCune-Albright ...
