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Experimental and clinical evidence for imprinting • Mouse embryology ‐ opposite phenotypes in cases of uniparental disomy • Human imprinting syndromes: – Prader‐Willi syndrome (inheritance of paternal deletion ‐‐‐> maternal monosomy) – Angelman syndrome (inheritance of maternal deletion ‐‐‐> paternal monosomy) – Beckwith‐Wiedemann syndrome ‐ paternal disomy
Map of Imprinted Regions in Human Genome Maternally inherited homolog (left) Paternally inherited homolog (right)
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 and 36: Patau Syndrome A picture demonstrat
Page 37: History Patau syndrome, or “Triso
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 62: Genomic Imprinting
Page 65 and 66: • Maxillary hypoplasia • Large
Page 67: • Marked obesity • Excess fat o
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