Case 14/Picture 17 (09.02.2014.) Could you identify the picture?Answer
This is a picture of Patau syndrome (Trisomy 13). Note the absence of the nose, presence of proboscis and eye defects.
“Trisomy 13 was first observed by Thomas Bartholin in 1657, but the chromosomal nature of the disease was ascertained by Dr. Klaus Patau in 1960. The disease is named in his honor.” “Patau syndrom is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D), or because each cell contains an extra partial copy of the chromosome (i.e., Robertsonian translocation) or because of mosaicPatau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis (the mosaic form is caused by nondisjunction during mitosis). The extra genetic material from chromosome 13 disrupts the normal course of development, causing multiple and complex organ defects. Like all nondisjunction conditions (such as Down syndromeand Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average.” “The prevalence of trisomy 13 is between 1 in 5,000 and 1 in 29,000 live births, which is the third most common autosomal trisomy in newborns after trisomy 21 and trisomy 18.” “Manifestations and physical findings
- Nervous system
- Intellectual disability and motor disorder
- Holoprosencephaly (failure of the forebrain to divide properly).
- Structural eye defects, including microphthalmia, Peters anomaly (a type of eye abnormality), cataract, iris and/or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia
- Meningomyelocele (a spinal defect)
- Musculoskeletal and cutaneous
More than 80% of children with Patau syndrome die within the first year of life.”
” http://en.wikipedia.org/wiki/Patau_syndrome http://www.patient.co.uk/doctor/pataus-syndrome-trisomy-13
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