Download (Kegagalan kromosom untuk memisah selama meiosis

KELAINAN – KELAINAN
PERKEMBANGAN
NONDISJUNCTION
(Kegagalan kromosom untuk memisah selama meiosis)
ANEUPLOIDY
(Jumlah kromosom abnormal)
Karyotype: 45 XO, 47 XXY, or 47 XYY.
This individual’s second X
chromosome is absent or partially
absent. 45 XO occurs in 1 out of 2000
female births. Common characteristics
are:
•short stature
•premature ovarian failure
•webbed neck
•broad chest
•difficulty with spatial-temporal
processing
Several medical conditions that are
associated with Turner’s syndrome:
- One-third of patients suffer some form of
cardiac abnormality.
- Many also have abnormal kidneys, suffer
from hypothyroidism
Klinefelter’s sydrome is the most common
sex chromosome disorder.
individual carries an extra X chromosome.
47 XXY
affects 1 in every 500 births.
-gynecomastia
-hypogonadism
-sparse body hair
-Infertility
-higher risk of breast cancer and
osteoporosis.
47 XYY Jacob’s Sydrome
Jacob’s syndrome is a chromosomal condition that affects
males.
carries an extra Y chromosome.
Most often this person is unaware of their abnormal
karyotype.
Approximately 1 in 1,000 males are born with this
condition.
47 XYY individuals may be taller than average, aggressive,
and acne prone, but have no other distinguishing features.
Most of these males have normal sexual development and
are not infertile.
Conversely, this condition is associated with increased risk
of learning disabilities and speech and language
development.
MALFORMASI
KONGENITAL
MALFORMASI KONGENITAL???
Congenital physical anomaly
abnormalitas struktur dari suatu bagian tubuh.
Umumnya orang memiliki 1 atau lebih anomali
fisik
PENGERTIAN MALFORMASI KONGENITAL
Congenital disorders
- Anomali fisik minor
contoh: tanda lahir
- Malformasi sistem tunggal
contoh: kelainan jantung bawaan
- Kombinasi berbagai anomali yang
mempengaruhi berbagai bagian tubuh
- Defek metabolisme kongenital
Tipe utama congenital
disorders:
1.Anomali fisik kongenital
2.Kelainan metabolisme
3.Kelainan genetik lainnya
Sindroma malformasi
kombinasi malformasi yg mempengarhi > 1 bagian
tubuh
Birth defect (Cacat lahir)
istilah umum utk malformasi kongenital
(anomali fisik yg dikenali sehak lahir & secara nyata
merupakan masalah)
Genetic disorder / diseases
Semua mrpk kongenital, walaupun tidak tampak /
terekspresi
Genetic diseases
Single-gene defects
multiple-gene disorders
chromosomal defects.
Penyebab single-gene defects
- abnormalitas gen autosomal (2 kopi/
recessive disorder)
- (1 kopi/ dominant disorder).
Bbrp akibat delesi atau abnormalitas
beberapa gen pada 1 kromosom
Chromosomal disorders:
hilangnya atau duplikasi sebagian besar
kromosom (ratusan gen) atau kromosom intak
(utuh)
Mempengaruhi bbrp bagian tubuh yg berbeda atau
sistem organ
Congenital metabolic disease:
Inborn error of metabolism
Umumnya defek gen tunggal (diturunkan) 
mempengaruhi struktur atau fungsi bagian tubuh
Penyebab Congenital disorders
- Abnormalitas genetik
- Kondisi lingkungan I intra uterin
- Errors pd morfogenesis, atau
- Faktor-faktor yg tdk diketahui
PERIODE KRITIS PERKEMBANGAN
IDW
Defek CNS/SSP
Berdasarkan Waktu
Terjadinya
• Neurulation Defects
• Migration defects
neuralation defects
anencephaly
neurulation defects: spina bifida
Penyebab: kekurangan asupan asam folat
Kekurangan Alpha-fetoproetin di CSF
Migration Defects
1. Lissencephaly (agyria)
2. Pachygyria
3. Polymicrogyria
4. Cortical heterotropia
5. Schizencephaly
defect of cerebrospinal fliud (CSF) flow, leading
to enlarged ventricles and head, separated skull
cranial sutures and fontanelles.
Trisomy 21: Down Syndrome
PARASITIC
TWIN
TERIMA KASIH