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who discovered patau syndrome

A member asked:
Dr. Oscar Novick
58 years experience Pediatrics
T. Bartholin: Patau syndrome which is a duplication of chromosome 13 was originally described by thomas Bartholin's in 1657.

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A 43-year-old member asked:
Dr. Roman Alvarez
41 years experience Neonatology
What is it.: Patau's syndrome is the presence of various dysmorphic features in a child a set of three chromosomes 13. This is called trisomy, in this case, trisom ... Read More
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Dr. Anna-Kaisa Niemi
16 years experience Clinical Genetics
Patau = trisomy 13: Patau syndrome = trisomy 13. Patients have extra copy of chromosome 13. It presents at birth and includes intellectual disability, often heart defects ... Read More
A 31-year-old member asked:
Dr. Nikolaos Zacharias
26 years experience Maternal-Fetal Medicine
Lethal Trisomy 13.: Patau syndrome refers to a perinatally lethal condition that results from an extra chromosome 13. It usually features holoprosencephaly microcephaly c ... Read More
A 49-year-old member asked:
Dr. James Ferguson
46 years experience Pediatrics
It's not: Patau syndrome arises from a non-disjunction event prevents the 18 chromosome from dividing its pair & sends 2, not one to the egg. At conception ... Read More
A 44-year-old member asked:
Dr. Brad Goldenberg
36 years experience Pediatrics
Extra chromosome 13: Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from ch ... Read More
A 30-year-old member asked:
Dr. Nikolaos Zacharias
26 years experience Maternal-Fetal Medicine
Non-disjunction.: The majority of cases of the lethal patau or trisomy 13 syndrome are caused by nondisjunction (47, +13) related to advanced maternal age. Robertsonian ... Read More
A 43-year-old member asked:
Dr. Danae Steele
31 years experience Maternal-Fetal Medicine
Not inherited: Patau syndrome, or trisomy 13, is not inherited, in that a baby does not "get it" from either parent. It is usually caused when the egg does not divi ... Read More
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A 38-year-old member asked:
Dr. James Ferguson
46 years experience Pediatrics
It's not: Patau syndrome arises from a non-disjunction event prevents the 18 chromosome from dividing its pair & sends 2, not one to the egg. At conception the ... Read More
A 46-year-old member asked:
Dr. Marilynn Frederiksen
47 years experience Maternal-Fetal Medicine
Patau Syndrome: Patau syndrome is another name for trisomy 13. Babies with trisomy 13 usually die shortly after birth.
A 39-year-old member asked:
Dr. Maulik Shah
24 years experience Clinical Genetics
Supportively: Patau is a chromosomal abnormality of trisomy 13. There is no treatment of the cause but the various symptoms can be treated. For example, heart defe ... Read More
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