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Endocrine disorder • Thyroid disease – Hypothyroidism occurs more frequently than hyperthyroidism. • Diabetes –The risk of type 1 diabetes is three times greater than that of the general population.
Mortality Median age of death has increased from 25 yrs in 1983 to 49 yrs in 1997, an average of 1.7 yrs increase per year. Most likely cause of death is CHD, Dementia, Hypothyroidism and Leukemia. Improved survival is because of increased placements of infants in homes and changes in treatment for common causes of death.
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 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 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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