Patau Syndrome Flashcards
Another name of Patau syndrome
trisomy 13 or trisomy D
Which one is Extra chromosome in patau syndrome?
13
Types/modes of cytogenetics in Patau syndrome
Non-dysjunction
Robertsonian translocation
When does non-dysjunction occur to cause Patau syndrome?
during meiosis phase
Chromosomal conditions wih non-dysjunction
Down syndrome (trisomy 21)
Edward syndrome (trisomy 18)
Patau syndrome (trisomy 13)
Association between maternal age and incidence of Patau syndrome
Increased maternal age >>>>> increases incidence of Patau syndrome
Incidence of Patau syndrome if maternal age (average) 31
1 per 25,000 live births
Brain features of Patau syndrome
Mental and motor challange
Microcephaly
Holoprosencephaly (+/- alobar)
Occipital encephalocele
Fushion of hemispheres
Indistinct gyri
Learning if Patau syndrome survives to childhood
Profound learning disabilities
Eye features of Patau syndrome
Microphthalmia
Peters anomaly
Cataract
Iris and/or fundus coloboma
Retinal dysplasia
Retinal detachment
Optic nerve hypoplasia
Cortical visual loss (occipital cortex)
Sensory nystagmus
Facial features in Patau syndrome
Slopping forehead
Proboscis superior to single central palpebral fissue
Proboscis showing single nostril
Fused eyelids
Low set ears
Cleft palate, Cleft lip
Cutis aplasia (missing portion of skin/hair) >> anywhere in the body
Trunk features of Patau syndrome
Congenital cardiac defects
Transposition of aorta
Hypoplastic pulmonary trunk
Meningomyelocele (a spinal defect)
Omphalocele (abdominal defect)
Kidney defects
Abnormal genitalia
Limb features of Patau syndrome
Abnormal palm pattern
Polydactyly (extra digits) - post axial
Overlapping of fingers over thumb
Prominent heel
Deformed feet (Rocker-bottom feet = vertical talus)
Diagnostic test
Karyotyping
Karyotype is done by > ?
Giemsa-banding
