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R
i lo n di truy n
M
ap 13.7
Th tam b i
DOWN’S SYNDROME
What is Down’s syndrome?
Down’s syndrome is the most common trisomy abnormality,
which is characterised by specific signs and symptoms.
Causes
•
Trisomy 21.
Signs and symptoms
•
Learning difficulties.
•
Short stature.
•
Flattened nose.
•
Slanted eyes.
•
Simian crease.
•
Gap between 1st and 2nd toe.
Investigations
•
Antenatal testing: ultrasound for nuchal translucency.
•
Radiology: pelvic X-ray shows dysplastic pelvis.
•
ECG and ECHO for cardiac complications.
Treatment
•
Conservative: parent education.
•
Medical: management of complications.
•
Surgical: management of complications.
Complications
•
Atrial septal defects.
EDWARD’S SYNDROME
What is Edward’s syndrome?
Edward’s syndrome is the second most common trisomy
abnormality.
Causes
•
Trisomy 18.
Signs and symptoms
•
Rocker bottom feet.
•
Learning difficulties.
•
Clenched hands.
•
Low set ears.
•
Micrognathia.
•
Cleft lip or cleft palate.
•
Undescended testicles.
Investigations
•
Chromosomal analysis confirms diagnosis.
•
ECG and ECHO for cardiac complications.
Treatment
•
Conservative: parent education and support particularly
since life expectancy is 4 months – 1 year.
Complications
•
Coarctation of the aorta.
•
Atrial septal defects.
•
Thông liên th t
•
H p tá tràng
•
Lơxêmi c p dòng lympho
•
B nh Alzheimer
•
Suy tuy n giáp tr ng
•
Thoát v b n
•
Thoát v vùng r n b m sinh.
•
B t s n th n
H I CH NG PATAU
H i ch ng Patau là gì?
Là m t b t thư ng NST
Nguyên nhân
•
Trisomy 13
Tri u ch ng
•
Khó khăn trong vi c h c t p
•
B nh tim b m sinh
•
Khe h môi/ vòm mi ng
•
T t đ u nh
•
T t th a ngón
•
Bàn chân v o
Xét nghi m
•
Phân tích NST xác nh n ch n đoán
•
ECG và ECHO v i bi n ch ng tim m ch
Đi u tr
•
Giáo d c ngư i nhà và h tr đ c bi t, cu c
s ng kéo dài mong đ i dư i 1 năm
Bi n ch ng
•
Thoát v vùng r n b m sinh (
Omphalocoele).
•
Th n đa nang
•
Thông liên th t
•
Thoát v b n
MAP 13.7
Trisomies
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