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Description •Patau syndrome ‐ also known as trisomy 13 and trisomy D. •Affects about 1 in 12,000 live births. •More than 80% of infants with Patau syndrome die within their first year of life. The Simian line, or an abnormal palm pattern that is usually a symptom of Patau syndrome. Cayden Phipps: 3A ‐ Abrams 36
History Patau syndrome, or “Trisomy 13”, as it was first called, was first observed by Thomas Bartholin in 1657. However, the actual genetic and chromosomal‐related parts of it were discovered by Dr. Klaus Patau in 1960, hence the name “Patau syndrome”. Cayden Phipps: 3A ‐ Abrams 37
Page 1 and 2: Syndromes
Page 3 and 4: • Characteristic facial features:
Page 5: • Bridged palmar crease: two tran
Page 8 and 9: Trisomy 21: Physical Findings • H
Page 10 and 11: Down syndrome • 1 in 700 live bir
Page 12 and 13: Meiotic Non‐disjunction (Trisomy
Page 14: Interphase FISH test for trisomy 21
Page 17 and 18: Trisomy 21 amniocyte
Page 19 and 20: Neonatal features • Flat facial p
Page 21 and 22: Heart Disease • 50 % of Down Synd
Page 23: Growth • BW, length and HC are le
Page 26 and 27: Hematologic disorders • The risk
Page 28 and 29: Endocrine disorder • Thyroid dise
Page 30 and 31: REPRODUCTION Women with DS are fert
Page 33 and 34: Down’s Syndrome
Page 35: Patau Syndrome A picture demonstrat
Page 40 and 41: Common Problems cont. Muscular and
Page 42 and 43: Common Problems Nervous system prob
Page 44 and 45: Mosaic Patau A small percentage of
Page 47 and 48: Trisomy 18 (Edward) • Incidence 1
Page 49 and 50: •Meckel’s diverticulum, horsesh
Page 58 and 59: Imprinting: Definition and historic
Page 60 and 61: Experimental and clinical evidence
Page 62: Genomic Imprinting
Page 65 and 66: • Maxillary hypoplasia • Large
Page 67: • Marked obesity • Excess fat o

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