 Ahmad Reiman

 Alia Zaharani Utami

 Amalia Dienanti Fadhilla
 Ashifa Maulidya Shibly
 Deo Rafael Asnawie
 Rafika Novianti
 Sarah Qonitah
 Sheisa Marinka
 Trisa Andami
 Wulan Purnama Sari
 James (45 years old) and Mary (40 years old) had five children. Their first son,
John (10 years old) had marked speech delay and was eventually diagnosed as
intellectual disability. Their second child was a daughter, Lynn (9years old) who
was perfectly fine. Their third child, Jeremy (7 years old) also had major speech
difficulties and was also diagnosed as intellectual disability. Their fourth child,
Peter (6years old) was born barely 10 months after their third child. He, too, had
marked speech delay, was late in walking (20 months), was subject to severe
tantrums, was hyperactive, flapped his hands frequently, and was thought to have
autistic behavior. Their fifth child, Rose (3 years old) seemed generally okay but
had considerable learning difficulties, especially in mathematics. Mary had left
school in the 10th grade, and James worked in construction. Mary had two
brothers with mental retardation of “unknown cause”. One of her two sisters had
no children since her periods stopped when she was 32. Mary’s one maternal
uncle, was thought to have developed Parkinson’s disease when he was 52. James
had only one sibling, a brother, who also had mild mental retardation, cause
unknown. Their pediatrician noted that Peter’s head was rather large (in the 90th
percentile), and that he had large, prominent ears, a prominent forehead and jaw
with a long face, and obvious intellectual deficits, which included poor speech and
autistic behavior. He immediately suspected a diagnosis of the Fragile X syndrome.
 Marked Speech Delay : Keterlambatan berbicara.

 Intellectual Disability :Kekurangan atau kelainan pada

karakteristik dengan keterbatasan intelektual dan kemampuan
beradaptasi yang mana dapat memengaruhi kehidupan sosial
dan practical skill.

 Tantrums : Kemarahan

 Hyperactive :Peningkatan berlebihan

atau abnormal aktivitas atau fungsi otot.

 Autistic behavior :Perilaku autism (kelainan

perkembangan sistem saraf pada seseorang yang kebanyakan
diakibatkan oleh factor hereditas dan biasanya sudah daoat
ditedeksi sejak bayi berusia 6 bulan
 Mental retardation : Perkembangan mental yang
terlambat.

 Parkinson’s disease :Kelompok kelainan neurologis

yang ditandai oleh hipokinesia, tremor, rigiditas muscular.

 Pediatrician : Dokter Anak.

 Prominent : Menonjol atau membesar.

 Fragile X Syndrome :Penyakit genetik yang terjadi

perubahan pada Kromosom X dan biasanya terjadi pada
anak laki-laki dan diwariskan.
Identifikasi Masalah
 He (peter) , too, had marked speech delay,
was late in walking (20 months), was subject
to severe tantrums, was hyperactive, flapped
his hands frequently, and was thought to have
autistic behavior. Their pediatrician noted that
Peter’s head was rather large (in the 90th
percentile), and that he had large, prominent
ears, a prominent forehead and jaw with a
long face, and obvious intellectual deficits,
which included poor speech and autistic
behavior. He immediately suspected a
diagnosis of the Fragile X syndrome.
1. Apa itu Fragile X Sydrome?
2. Apa cirri-ciri Fragile X Syndrome?
3. Apa yang menyebabkan Fragile X Syndrome?
4. Bagaimana dampak Fragile X Syndrome?
5. Bagaimana mekanisme Fragile X Syndrome?
6. Apa yang dapat menyebabkan Intellectual Disability?
7. Pada usia berapa biasanya Intellectual Disability dapat dilihat?
8. Apa cir-ciri Intellectual Disability?
9. Apa ciri-ciri Autistic behavior?
10. Apa penyebab menonjolnya telinga, kepala, dan rahang yang
membesar?
11. Berapa IQ orang normal?
12. Apakah yang menyebabkan membesarnya kepala pada skenario tersebu
13. Pada usia berapa seorang bayi dapat berjalan?
14. Apa dampak keterlambatan berbicara dan berjalan pada wanita?
15. Apa yang dapat menyebabkan seseorang dikatakan hyperactive?
16. Apa ciri-ciri hyperactive pada anak yang normal?
17. Apa yang menyebabkan severe tantrums?
 Marry had two brothers with mental retardation of
“unknown cause”. One of her two sisters had no
children since her periods stopped when she was 32.

1. Apa penyebab menopause yang terlalu dini?

2. Apa ciri-ciri menopause?
3. Berapa umur wanita menopause melahirkan normal?
4. Apa dampak menopause?
5. Apa ciri-ciri Parkinson?
6. Apa dampak Parkinson?
7. Apa pengertian Parkinson?
8. Apa penyebab Parkinson?
 James had only one sibling, a brother,
who also had mild mental retardation,
cause unknown.
1. Bagaimana keterkaitan Intellectual
disability terhadap pola pewarisan
sifat?
 Their first son, John (10 years old) had
marked speech delay and was eventually
diagnosed as intellectual disability. Their third
child, Jeremy (7 years old) also had major
speech difficulties and was also diagnosed as
intellectual disability. Their fifth child, Rose (3
years old) seemed generally okay but had
considerable learning difficulties, especially in
mathematics
1. Apa ciri-ciri speech difficulties?
2. Apa penyebab speech difficulties?
3. Apa dampak speech difficulties?
4. Apa ciri-ciri learning difficulties?
5. Apa penyebab learning difficulties?
Kenapa anak laki-laki mengalami
gangguan mental, sedangkan anak
perempuan tidak?
6. Pada usia berapa seorang anak yang
normal dapat berbicara?
No. Learning Issue What I know What I don’t What I have to How I will learn
know prove

1. Inheritance V

2. Autism V

3. Parkinson V

4. Intellectual Disability V

5. Fragile X Syndrome V

6. Menopause V
Kesimpulan
 Pola pewarisannya adalah Autosomal
semidominan
 Rose merupakan carrier / premutasi gen
FMR-1 yang bermutasi
 Baik Keluarga Rose maupun James
membawa gen yang bermutasi
 Rose menurunkan Gen FMR-1 yang
bermutasi kepada anak anaknya