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Chromosome Abnormalities (Clinical Indications for CH. Analysis (early…

- - - - Origin: mostly Nondisjunction
        
        chromosome-specific pattern
        
        CH16 : M1 (mat)
        
        CH18 : M2 (mat.)
        
        mostly "MATERNAL M1 ERROR"
        
        subset-specific pattern
        
        acrocentric : M1
        
        CAUSES
        
        (1) mutation of SYCP3 gene, SYCP3 is essential component of the AE or LE in synaptonemal complex
        
        (2) motor protein malfunction
        
        (3) advanced maternal age
      - Disease
        
        :explode:Down's Syndrome
        
        Detection
        
        (1) Maternal Serum Screening (MSS)
        
        AFP 下降
        
        uE3 下降
        
        HCG 上升
        
        Other Markers(Trimester 1): PAPP-A下降, b-HCG上升
        
        inhibin A 上升
        
        (2) 羊膜穿刺
        
        :explode: Trisomy 18
        
        Detection
        
        (1) MSS(Trimester 2)
        
        HCG 下降
        
        AFP 下降
        
        uE3 下降
        
        Other Markers(Trimester 1): PAPP-A: 下降, b-HCG下降
- - - - Reciprocal Translocatoin
        
        Disease : usually without phenotypic effect
        
        Quadrivalent forms in Meiosis 1
        
        2:2 Segregation
        
        [1/3] Balanced Gametes
        
        [1/6] Normal
        
        disomy
        
        [1/6] Balanced translocation
        
        disomy
        
        [2/3] Unbalanced Gametes
        
        partial trisomy + partial monosomy
        
        3:1 Segregation
        
        Nomenclature
        
        der() : 含centromere的ch
        
        t(x;y)(a;b) : x的a和y的b交換
      - Nonreciprocal translocation
        
        Robertsonian Translocation
        
        Quadrivalent forms in Meiosis 1
        
        2:2 Segregation
        
        [2/6] Balanced Gametes
        
        [1/6] Balanced translocation
        
        [1/6] Normal
        
        [4/6] Unbalanced Gametes only [1/6] is observed
        
        :red_cross:tri-14 > not observed
        
        :red_cross:mono-14 > not observed
        
        :red_cross:mono-21 > not observed
        
        tri-21 > observed
        
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        Nomenclature
        
        rob(x;y)(a;b) : x的a和y的b合體
        
        der(x;y)(a;b) : x的a和y的b合體
        
        Insertion
        
        Nomenclature
        
        ins(x;y)(a;bc) : y的b~c插入x的a
    - - Paracentric Inv.
        
        LOOP forms in Meiosis 1
        
        recombination
        
        [1/2] non-recombinant CH > balanced
        
        [1/4] normal product
        
        [1/4] Inversion product
        
        [1/2] recombinant CH > unbalanced
        
        :red_cross:[1/4] acentric product
        
        :red_cross:[1/4] dicentric product
      - Pericentric Inv.
        
        LOOP forms in Meiosis 1
        
        recombination
        
        [1/2] non-recombinant CH > balanced
        
        [1/4] normal product
        
        [1/4] Inversion product
        
        [1/2] recombinant CH > unbalanced
        
        dup. + del.
        
        partial trisomy + partial monosomy
      - Disease : usually without phenotypic effect
    - - (1) Breaks occur within a gene
      - (2) Microdeletion / Microduplication
        
        unequal crossing over
        
        segmental aneusomy
        
        Genomic Disorders
        
        Contiguous Gene Syndrome
        
        ex: 22q11.2 上的genomic disorders
        
        duplication
        
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        duplication(inverted)
        
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        deletion
        
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      - (3) Position Effect
        
        :explode: Aniridia 虹膜缺損
        
        affected gene : PAX6
        
        :explode: X-linked deafness
        
        affected gene : POU3F4
        
        :explode: Preaxial polydactyly
        
        affected gene : SHH(Sonic Hedgehog)
        
        rearrangement : PPD translocatoin
- - - - extraembyronic development
    - - fetal development
    - - :explode:Hydatidiform moles
        
        partial moles (not by UPD)
        
        CAUSE: 2 sperms + 1 oocyte
        
        complete moles (by UPD)
        
        CAUSE: (1)1 sperm + 1 ovum with no nucleus (2)post-zygotic duplication (monosomy rescue)
      - :explode:Ovarian teratomas
        
        CAUSE: (46,XX) only maternal ch.
  - - - :explode:PWS
        
        PWS gene(unknown): maternal imprinted
        
        CAUSE: (1)loss paternal PWS gene (2)loss snoRNA gene cluster
        
        :frowning_face:SYMPTOMS: obesity, small hands and feet, short stature, mental developmental delay
      - :explode:AS
        
        AS gene(UBE3A): paternal imprinted (especially in CNS)
        
        CAUSE: loss maternal AS gene
        
        :frowning_face:SYMPTOMS: wide stance
      - 15q11.2-q13
      - molecular basis
        
        deletion
        
        UPD
        
        (1) disomic + monosomic germ cell (2)post-zygotic deletion
        
        (1) nullisomic + monoomic germ cell (2)post-zygotic duplication
        
        (1) disomic + nullisomic germ cell (gamete complementatioin)
        
        ICR mutation
        
        gene mutation
- - - - BrdU(Bromodeoxyuridine)
- - - - SRY
      - AZF > spermatogenesis
      - DAZ > deleted in azoospermia
    - - DAX1
      - ATRX = XH2 > X encoded DNA helicase
      - SOX3 > 和SRY同源
    - - SOX9 > testis formation
      - SF-1 > gonadal development, transcription of AMH
      - DMRT1
      - WT1 > gonadal development, teticular development
      - Lim-1
      - CBX2 > transcriptional regulation
- - - - :explode: XY gonadal dysgenesis
        
        SRY mutation > female
        
        DAX1 duplication > female
        
        SOX9 mutation > female
      - :explode: Ambiguous genitalia
        
        SF1 (NR5A1) mutation
        
        WNT4 duplication
    - - :explode: (ovo)testicular DSD
        
        SRY translocated to X > male
        
        SOX3 duplication > male
        
        SOX9 duplication > male
  - - - SOX9 absence
      - disrupt testicular development
    - - WT1 mutatoin
      - disruption testicular development
    - - DMRT1, DMRT2 absence
      - 46,XY sex reveral
  - - - :explode: Steroid 5-a reductase deficiency
        
        :frowning_face:SYMPTOMS: 陰莖小，有隱密陰道囊
      - :explode: Androgen insensitivity syndrome (testicular feminization)
        
        :frowning_face:SYMPTOMS: 有正常女性外生殖器，睪丸在腹腔或腹股溝
    - - :explode: Congenital Adrenal Hyperplasia (CAH)
        
        :frowning_face:SYMPTOMS: 卵巢正常發育，有男性外生殖器構造、high androgen level、75% salt losing
        
        CAUSE: 皮質醇合成酵素缺失，21-hydroxylase缺失最常見