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Imprinting: Definition and historical perspectives • Imprinting: an epigenetic modification to DNA that results in “memory of parental origin” • By convention, the inactive allele is said to be “imprinted” • Early evidence: – early embryo nuclear transfer experiments – gynogenetic and androgenetic embryos fail to survive
Imprinting: Mechanisms and purpose • Epigenetic modification that is reversible in germ line • DNA methylation and chromatin configuration are important • Imprinting may be a reflection of “parental conflict:” – paternal gene for rapid growth – maternal genes for growth retardation to maximize litter size
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 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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