KKPMT VI B

DNA dan CHROMOSOME

CHAPTER XVII
Congenital malformations, deformations and chromosomal abnormalities
(Q00–Q99)
Excludes: inborn errors of metabolism (E70–E90)

This chapter contains the following blocks:

Q00–Q07 Congenital malformations of the nervous system
Q10–Q18 Congenital malformations of eye, ear, face and neck
Q20–Q28 Congenital malformations of the circulatory system
Q30–Q34 Congenital malformations of the respiratory system
Q35–Q37 Cleft lip and cleft palate
Q38–Q45 Other congenital malformations of the digestive system
Q50–Q56 Congenital malformations of genital organs
Q60–Q64 Congenital malformations of the urinary system
Q65–Q79 Congenital malformations and deformations of the musculo skeletal system
Q80–Q89 Other congenital malformations
Q90–Q99 Chromosomal abnormalities, not elsewhere classified
Chromosomal abnormalities,
not elsewhere classified
( Q90 – Q99 )
Siklus sel adalah fungsi sel yang paling mendasar berupa duplikasi akurat
sejumlah besar DNA di dalam kromosom, dan kemudian memisahkan hasil
duplikasi tersebut hingga terjadi dua sel baru yang identik
Pada sel prokariota yang tidak memiliki inti sel,
siklus sel terjadi melalui suatu proses yang
disebut pembelahan biner

Sedang pada sel eukariota yang memiliki inti sel,

siklus sel terbagi menjadi dua fase fungsional,
fase S dan M, dan fase persiapan, G1 dan G2
MEIOSIS 1
1. Meiosis I
2. Meiosis II The right image at the green arrow is
3. Fertilization nondisjunction taking place during
4. Zygote meiosis I.
Nondisjunction is when chromosomes
The left image at the blue fail to separate normally resulting in a
arrow is nondisjunction taking gain or loss of chromosomes.
place during meiosis II.
non·dis·junc·tion (non'dis-jŭnk'shŭn)
Failure of one or more pairs of chromosomes to separate
at the meiotic stage of karyokinesis, with the result that
both chromosomes are carried to one daughter cell and
none to the other.
Nondisjunction
Normal meiosis (A) is contrasted with failure of homologous
chromosomes to separate in meiosis I (B)
or of sister chromatids to separate in meiosis II (C).
From Dorland's, 2000.
Pada umumnya, manusia normal memiliki 46 kromosom,
22 pasang kromosom somatik (autosom dengan simbol
22AA) dan 1 pasang kromosom kelamin
(genosom dengan simbol XX untuk perempuan dan XY
untuk laki-laki).

Namun, pada beberapa kasus, terdapat variasi jumlah

kromosom yang disebabkan oleh beberapa hal.
Hal itu yang disebut aneuploidi
Aneuploidi menyebabkan adanya variasi jumlah
kromosom, ada pasangan kromosom yang kekurangan
satu kromosom, sehingga hanya tersisa satu kromosom
(monosomi), ada pula yang kelebihan satu kromosom,
sehingga pasangan kromosom tersebut memiliki tiga
kromosom, disebut trisomi, seperti yang dijumpai pada
Sindrom Edwards.

Selain trisomi, terdapat istilah lain

seperti tetrasomi (4) dan pentasomi (5) untuk
penambahan jumlah kromosom yang lebih banyak lagi.
Mutasi gen

perubahan yang terjadi pada bahan genetik

(DNA maupun RNA), baik pada taraf urutan gen
(disebut mutasi titik) maupun pada taraf
kromosom.
Aneuploidi adalah
perubahan jumlah n-nya. Dalam hal ini, "n" menandakan jumlah set
kromosom.
Aneusomi adalah perubahan jumlah kromosom.
Delesi
Terjadi ketika sebuah fragmen kromosom patah dan hilang pada
saat pembelahan sel.
Duplikasi
adalah mutasi yang terjadi karena penambahan ruas kromosom
atau gen dengan ruas yang telah ada sebelumnya
Inversi
adalah penataan kembali struktur kromosom yang terjadi
melalui pemutaran arah suatu ruas kromosom sehingga
kromosom mutan mempunyai ruas yang runtunan basanya
merupakan kebalikan dari runtunan basa kromosom liar.

Translokasi
adalah mutasi yang terjadi akibat perpindahan ruas DNA
(segmen kromosom) ke tempat yang baru, baik dalam satu
kromosom atau antarkromosom yang berbeda.
Q90 Down's syndrome

Q90.0 Trisomy 21, meiotic nondisjunction

Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
Q90.2 Trisomy 21, translocation
Q90.9 Down's syndrome, unspecified
Trisomy 21 NOS
Q91 Edwards' syndrome and Patau's syndrome
Q91.0 Trisomy 18, meiotic nondisjunction
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
Q91.2 Trisomy 18, translocation
Q91.3 Edwards' syndrome, unspecified
Q91.4 Trisomy 13, meiotic nondisjunction
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
Q91.6 Trisomy 13, translocation
Q91.7 Patau's syndrome, unspecified
Sindrom yang biasa disebut trisomi 18 ini
merupakan suatu kelainan kromosom yang
disebabkan adanya penambahan satu kromosom
pada pasangan kromosom autosomal nomor 18.
The most common types of autosomal
trisomy that survive to birth in humans
are:
• Trisomy 21 (Down syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 13 (Patau syndrome)
• Trisomy 9
• Trisomy 8 (Warkany syndrome 2)
• Trisomy 22
Edwards syndrome, also known as trisomy 18, is

a genetic disorder caused by the presence of all, or

part of a third copy of chromosome 18.
Many parts of the body are affected.
Babies are often born small and have heart defects.
Other features include a small head, small jaw,
clenched fists with overlapping fingers, and severe
intellectual disability
Edwards syndrome

An extra copy of genetic material on the 18th

chromosome
The additional chromosome usually occurs before
conception.
Edwards syndrome
Patau syndrome is
a syndrome caused by a chromosomal abnormality, in
which some or all of the cells of the body contain extra
genetic material from chromosome 13.
The extra genetic material disrupts normal development,
causing multiple and complex organ defect

Six fingers in a baby with Patau syndrome

Chromosomal examination (karyotype)
the Harmony Prenatal Test proved superior to
traditional first trimester screening for the
detection of trisomy 21 (Down syndrome).

Chromosome Analysis, Blood [14596X]

Test Code 14596
CPT Code(s) 88230, 88262
Genetic Primary Care Institute
Chromosome Analysis (Karyotyping)

Also known as:

Karyotype; Cytogenetics; Cytogenetic Analysis; Chromosome
Studies; Chromosome Karyotype
Formal name: Chromosome Analysis
Related tests:
Amniotic Fluid Analysis, Second Trimester Maternal Serum Screening,
First Trimester Down Syndrome Screen,
Chorionic Villus Sampling, Bone Marrow Aspiration and Biopsy
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
Includes: unbalanced translocations and insertions
Excludes: trisomies of chromosomes 13, 18, 21 (Q90–Q91)

Q92.0 Whole chromosome trisomy, meiotic nondisjunction

Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)

Q92.2 Major partial trisomy

Whole arm or more duplicated.

Q92.3 Minor partial trisomy

Less than whole arm duplicated.

Q92.4 Duplications seen only at prometaphase

Q92.5 Duplications with other complex rearrangements

Q92.6 Extra marker chromosomes

Q92.7 Triploidy and polyploidy

Q92.8 Other specified trisomies and partial trisomies of autosomes

Q93 Monosomies and deletions from the autosomes, not elsewhere classified
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
Q93.2 Chromosome replaced with ring or dicentric
Q93.3 Deletion of short arm of chromosome 4
Wolff-Hirschorn syndrome
Q93.4 Deletion of short arm of chromosome 5
Cri-du-chat syndrome , (cat-cry or call of the cat)
Q93.5 Other deletions of part of a chromosome
Angelman syndrome
Q93.6 Deletions seen only at prometaphase
Q93.7 Deletions with other complex rearrangements
Q93.8 Other deletions from the autosomes
Q93.9 Deletion from autosomes, unspecified
Wolf–Hirschhorn syndrome (WHS),
also known as chromosome deletion Dillan 4p
syndrome, Pitt–Rogers–Danks syndrome (PRDS)
or Pitt syndrome
Cri-du-chat syndrome
The syndrome gets its name from the
characteristic cry of affected infants, which is
similar to that of a meowing kitten, due to
problems with the larynx and nervous system
Angelman Syndrome –
penyakit yang mengacu pada anomali genetik yang ditandai dengan
keterbelakangan mental dan disertai dengan kejang, gerakan kacau
tangan, sering tertawa dan tersenyum.Penyakit ini juga disebut sindrom
"peterseli" atau "tertawa boneka.“

Dikenali oleh karakteristik sebagai berikut: kurang dari ukuran rata-rata

kepala, gigi banyak spasi, perataan dari belakang kepala, mulut lebar,
lidah menonjol, dagu menonjol.Pasien menderita gangguan tidur,
strabismus, kelengkungan tulang belakang, yang sensitif terhadap suhu
tinggi.
Q95 Balanced rearrangements and structural markers, not elsewhere
classified
Includes: Robertsonian and balanced reciprocal translocations and insertions
Q95.0 Balanced translocation and insertion in normal individual
Q95.1 Chromosome inversion in normal individual
Q95.2 Balanced autosomal rearrangement in abnormal individual
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
Q95.4 Individuals with marker heterochromatin
Q95.5 Individuals with autosomal fragile site
Q95.8 Other balanced rearrangements and structural markers
Q95.9 Balanced rearrangement and structural marker, unspecified
Q96 Turner's syndrome
Excludes: Noonan's syndrome (Q87.1)
Q96.0 Karyotype 45,X
Q96.1 Karyotype 46,X iso (Xq)
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
Q96.3 Mosaicism, 45,X/46,XX or XY
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
Q96.8 Other variants of Turner's syndrome
Q96.9 Turner's syndrome, unspecified
Sindrom Turner
adalah suatu kelainan genetik pada wanita karena kehilangan satu
kromosom X. Wanita normal memiliki kromosom seks XX dengan jumlah
total kromosom sebanyak 46, namun pada penderita sindrom Turner
hanya memiliki kromosom seks XO dan total kromosom 45.
Hal ini terjadi karena satu kromosom hilang atau nondisjunction saat atau
selama gametogenesis (pembentukan gamet) atau pun pada tahap awal
pembelahan zigot

Wanita dengan sindrom Turner memiliki kelenjar kelamin (gonad) yang

tidak berfungsi dengan baik dan dilahirkan tanpa ovari atau uterus.
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere
classified
Excludes: Turner's syndrome (Q96.-)
Q97.0 Karyotype 47,XXX
Q97.1 Female with more than three X chromosomes
Q97.2 Mosaicism, lines with various numbers of X chromosomes
Q97.3 Female with 46,XY karyotype
Q97.8 Other specified sex chromosome abnormalities, female phenotype
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
Kariotipe
adalah gambar yang menggambarkan kromosom
suatu organisme.
Istilah ini juga digunakan untuk merujuk lebih umum
untuk komplemen kromosom ditemukan dalam
perwakilan sehat dari spesies.
Manusia, misalnya, memiliki 46 kromosom dalam 23
pasang
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere
classified
Q98.0 Klinefelter's syndrome karyotype 47,XXY
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
Q98.3 Other male with 46,XX karyotype
Q98.4 Klinefelter's syndrome, unspecified
Q98.5 Karyotype 47,XYY
Q98.6 Male with structurally abnormal sex chromosome
Q98.7 Male with sex chromosome mosaicism
Q98.8 Other specified sex chromosome abnormalities, male phenotype
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
Sindrom Klinefelter
merupakan salah satu jenis penyakit gangguan genetika.
Kondisi ini diderita oleh laki-laki yang dilahirkan dengan
kromosom X tambahan.
Kromosom berfungsi untuk menentukan jenis kelamin bayi,
di mana bayi laki-laki memiliki susunan kromosom XY,
sedangkan bayi perempuan XX.
Pada penderita sindrom Klinefelter, susunan kromosom yang
terbentuk di tubuh mereka adalah XXY, dengan kata lain mereka
memiliki duplikat kromosom X
Q99 Other chromosome abnormalities, not elsewhere
classified
Q99.0 Chimera 46,XX/46,XY
Chimera 46,XX/46,XY true hermaphrodite
Q99.1 46,XX true hermaphrodite
46,XX with streak gonads
46,XY with streak gonads
Pure gonadal dysgenesis
Q99.2 Fragile X chromosome
Fragile X syndrome
Q99.8 Other specified chromosome abnormalities
Q99.9 Chromosomal abnormality, unspecified
46,XX/46,XY is

a chimeric genetic disorder caused by having two distinct cell populations

within the body. The chimerism arises in utero from the combination of an
XX zygote and an XY zygote (which otherwise would have developed into
twins) into a single embryo.
It is not to be confused with mosaicism and hybridism. 46,XX/46,XY is
typically associated with Intersex conditions such as ambiguous genitalia and
hermaphroditism.

46,XX/46,XY chimerism can be identified during pregnancy by prenatal

screening or in early childhood through genetic testing and direct
observation
Hermaphrodite :
Organisme yang menghasilkan sel
kelamin jantan dan betina
Swyer syndrome, or XY gonadal dysgenesis,

is a type of hypogonadism in a person whose karyotype is 46,XY.

The person is externally female with streak gonads, and if left
untreated, will not experience puberty.
Such gonads are typically surgically removed (as they have a
significant risk of developing tumors) and a typical medical
treatment would include hormone replacement therapy.
The syndrome was named by Gerald Swyer, an endocrinologist,
based in London, UK
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