复旦大学：《医学遗传学 Medical Genetics》课程教学资源（学习报告）edward’s syndrome_dmj_12301016020

EDIARD'SSYNDROMIE Trisomy 18 Dania m. Jacob(12307076020)

Dania M. Jacob (12301016020) 1

EDWARDS SYDROME Trisomy 18 is the second most common trisomy and occurs when a baby has three of the eighteenth chromosome /t is this extra genetic material that causes the problems associated with Trisomy 18 Edwards syndrome affects around 7 i3,000, but only7i5,000 6 000 live births b(72301076020)

Edward’s syndromE • Trisomy 18 is the second most common trisomy and occurs when a baby has three of the eighteenth chromosome. • It is this extra genetic material that causes the problems associated with Trisomy 18. • Edward's syndrome affects around 1 in 3,000, but only 1 in 5,000 – 6,000 live births. Dania M. Jacob (12301016020) 2

Karyotype From a Female With Edwards Syndrome (47, XX, +18) 2 16 20 2122X dG Clinical Tools,Inc b(72301076020)

Dania M. Jacob (12301016020) 3

CAUSES EDWYARD'S Trisomy 78 is caused by a miss r disjuncture during mitosis Parents have done nothing before or during pregnancy to cause this ah/30mh加 hEir chile b(72301076020)

causEs Edward’s • Trisomy 18 is caused by a miss￾disjuncture during mitosis. • Parents have done nothing before or during pregnancy to cause this disorder in their child. Dania M. Jacob (12301016020) 4

TYPES OFEDWARDS With each type, there is a range of possibilities Some children are medically fragile While others thrive Some children walk while others are confined to wheelchairs ab(12307076020)

TypEs of Edward’s • With each type, there is a range of possibilities. • Some children are medically fragile while others thrive • Some children walk while others are confined to wheelchairs. Dania M. Jacob (12301016020) 5

YPES OFEDIARDS Full Trisomy 18: The most common type of Trisomy 78 Occurring in about 95%6 of all cases) is full Trisomy With full Trisomy, the extra chromosome occurs in every cell in the babys body. This type of trisomy is not hereditary. b(72301076020)

TypEs of Edward’s • Full Trisomy 18: – The most common type of Trisomy 18 (occurring in about 95% of all cases) is full Trisomy. – With full Trisomy, the extra chromosome occurs in every cell in the baby's body. – This type of trisomy is not hereditary. Dania M. Jacob (12301016020) 6

YPES OFEDIARDS Partial Trisomy 78 Partial trisomies are very rare They occur when only part of an extra chromosome is present Some partial Trisomy 18 syndromes may be caused by hereditary factors Affected people have two copies of chromosome 18, plus a "partial piece of extra material from chromosome . b(72301076020)

TypEs of Edward’s • Partial Trisomy 18: – Partial trisomies are very rare. They occur when only part of an extra chromosome is present. – Some partial Trisomy 18 syndromes may be caused by hereditary factors. – Affected people have two copies of chromosome 18, plus a "partial" piece of extra material from chromosome 18. Dania M. Jacob (12301016020) 7

TYPES OFEDIARDS Mosaic Trisomy 18: Mosaic trisomy is also very rare It occurs when the extra chromosome is present in some (but not al of the cells of the body Mosaic Trisomy is not inherited and is a random occurrence that takes place during cell division b(72301076020)

Types of Edward’s • Mosaic Trisomy 18: – Mosaic trisomy is also very rare. – It occurs when the extra chromosome is present in some (but not all) of the cells of the body. – Mosaic Trisomy is not inherited and is a random occurrence that takes place during cell division Dania M. Jacob (12301016020) 8

CHARACTERISTICS OF EDIARDS Heart defects VSd (Ventricular Septal Defect): a hole between th ne ower chambers ASD(Atrial Septal Defect): a hole between the upper chambers Coarctation of the aorta: a narrowing of the exit vessel from the heart Kidney problems Part of the intestinal tract is outside the stomach Omphalocele) The esophagus doesn't connect to the stomach(esophageal artesia Excess amniotic fluid (polyhydramnios) Clenched hands Pocket of fluid on the brain(choroid plexus cysts) Rocker bottom feet Delayed growth Small jaw(mycrognathie Small head(microcephaly) Low-set ears Strawberry-shaped head severe developmental delays Umbilical or inguinal hernia b(72301076020

characTErisTics of Edward’s • Heart defects: – VSD (Ventricular Septal Defect): a hole between the lower chambers – ASD (Atrial Septal Defect): a hole between the upper chambers – Coarctation of the aorta: a narrowing of the exit vessel from the heart • Kidney problems • Part of the intestinal tract is outside the stomach (omphalocele) • The esophagus doesn’t connect to the stomach (esophageal artesia) • Excess amniotic fluid (polyhydramnios) • Clenched hands • Pocket of fluid on the brain (choroid plexus cysts) • Rocker bottom feet • Delayed growth • Small jaw (mycrognathia) • Small head (microcephaly) • Low-set ears • Strawberry-shaped head • Severe developmental delays • Umbilical or inguinal hernia Dania M. Jacob (12301016020) 9

CHARACTERISTICS OF EDIARDS occiput, or back part of the skull is prominent dysplastic, or malformed ears shield chest, or short and eminent sternum: and wide- set nipples clenched hands ith ov prominent heels Copynight the L b(72301076020)

characTErisTics of Edward’s Dania M. Jacob (12301016020) 10