Cell - Chromosome -DNA
1956 — Correct human chromosome number (46) discovered by
Joe Hin Tjio and Albert Levan.
First chromosomal disease identified: Down syndrome shown to be Trisomy 21 by Jérôme Lejeune
Patau Syndrome
The syndrome was first described in 1960 by Klaus Patau, a geneticist working at the University of Wisconsin–Madison.
Using
newly developed chromosome analysis techniques, they showed that the
condition was due to an extra chromosome 13.
- Patau and colleagues identified infants with:
- Severe intellectual disability
- Microcephaly
- Cleft lip / palate
- Polydactyly
- Congenital heart defects
Trisomy 13 Awareness Day is observed every year on March 13 to raise awareness about Patau syndrome (Trisomy 13), a rare chromosomal disorder caused by an extra copy of chromosome 13.



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