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Block 5 · Medical Genetics
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HEM04 · Cytogenetics
HEM04 · 17 diseases · by topic
Trisomies
Down syndrome, Robertsonian translocation Down syndrome, Edwards syndr…
4
Sex chromosome aneuploidies
Turner syndrome, Klinefelter syndrome, Triple X syndrome, 47,XYY syndr…
4
Mosaicism
Chromosomal mosaicism, Confined placental mosaicism
2
Balanced rearrangement carriers
Robertsonian translocation carrier, Balanced reciprocal translocation…
3
Deletions & microdeletions
Deletions & ring chromosomes, 22q11.2 deletion syndrome
2
X-linked
Manifesting female carrier (skewed X-inactivation)
1
Multifactorial disorders
Cleft lip and/or palate
1
Show all HEM04 diseases below ↓
HEM11 · Prenatal
HEM11 · 14 diseases · by topic
Trisomies
Down syndrome, Edwards syndrome, Patau syndrome
3
Sex chromosome aneuploidies
Turner syndrome
1
Mosaicism
Chromosomal mosaicism, Confined placental mosaicism
2
Balanced rearrangement carriers
Robertsonian translocation carrier, Balanced reciprocal translocation…
2
Autosomal dominant
Achondroplasia
1
Autosomal recessive
Cystic fibrosis
1
Trinucleotide repeat disorders
Fragile X syndrome, Fragile X-associated primary ovarian insufficiency…
3
Urea cycle & organic acid disorders
Methylmalonic and propionic acidemia
1
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HEM12 · Mitochondrial
HEM12 · 5 diseases · by topic
Mitochondrial disorders
MELAS, Pyruvate dehydrogenase complex deficiency, MNGIE, Leigh syndrom…
5
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HEM15 · Molecular
HEM15 · 13 diseases · by topic
Mosaicism
Chromosomal mosaicism
1
Autosomal dominant
Achondroplasia
1
Autosomal recessive
Cystic fibrosis
1
X-linked
Duchenne muscular dystrophy, Becker muscular dystrophy, Manifesting fe…
4
Trinucleotide repeat disorders
Fragile X syndrome, Fragile X-associated primary ovarian insufficiency…
3
Imprinting disorders
Uniparental disomy, Prader-Willi syndrome, Angelman syndrome
3
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HEM16 · Multifactorial
HEM16 · 9 diseases · by topic
X-linked
Manifesting female carrier (skewed X-inactivation)
1
Multifactorial disorders
Neural tube defects, MTHFR C677T variant (hyperhomocysteinemia), Cleft…
4
Syndromic mimics
Van der Woude syndrome, Meckel-Gruber syndrome
2
Teratogens
Fetal alcohol syndrome, Fetal hydantoin syndrome
2
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HEM17 · Pedigrees
HEM17 · 6 diseases · by topic
Sex chromosome aneuploidies
Turner syndrome
1
Autosomal dominant
Achondroplasia, Neurofibromatosis type 1, Split-hand/foot malformation
3
X-linked
Manifesting female carrier (skewed X-inactivation)
1
Trinucleotide repeat disorders
Huntington disease
1
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HEM18 · Epigenetics
HEM18 · 15 diseases · by topic
Imprinting disorders
Uniparental disomy, Prader-Willi syndrome, Angelman syndrome, Beckwith…
6
Chromatinopathies (writers, erasers, readers, remodelers)
Sotos syndrome, Weaver syndrome, Rubinstein-Taybi syndrome, Kabuki syn…
8
Multifactorial disorders
Cleft lip and/or palate
1
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HEM24 · Molecular Cyto
HEM24 · 12 diseases · by topic
Trisomies
Down syndrome, Edwards syndrome, Patau syndrome
3
Mosaicism
Chromosomal mosaicism
1
Balanced rearrangement carriers
Balanced reciprocal translocation carrier, Chromosomal inversion carrier
2
Deletions & microdeletions
22q11.2 deletion syndrome
1
Acquired cytogenetic abnormalities in cancer
Chronic myeloid leukemia, HER2-amplified breast cancer
2
X-linked
Duchenne muscular dystrophy
1
Imprinting disorders
Prader-Willi syndrome, Angelman syndrome
2
Show all HEM24 diseases below ↓
HEM28 · Biochemical
HEM28 · 10 diseases · by topic
Autosomal recessive
Cystic fibrosis
1
Amino acid disorders
Phenylketonuria, Maternal PKU, Tyrosinemia type I, Maple syrup urine d…
5
Urea cycle & organic acid disorders
Urea cycle disorders, Methylmalonic and propionic acidemia
2
Carbohydrate & fatty acid disorders
Classic galactosemia, Medium-chain acyl-CoA dehydrogenase deficiency
2
Show all HEM28 diseases below ↓
Intro & Cases
Intro to clinical genetics & case sessions · by session
HEM29 · Intro to Clinical Genetics
Down syndrome, Chronic myeloid leukemia, HER2-amplified breast cancer…
13
HEM30 · Cases: 22q11, NTD, Trisomy 21
Down syndrome, Robertsonian translocation Down syndrome, Robertsonian…
6
HEM31 · Cases: Duchenne, Fragile X
Duchenne muscular dystrophy, Becker muscular dystrophy, Manifesting fe…
7
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Chromosomal Aneuploidy & Mosaicism
Structural Rearrangements & Microdeletions
Single-Gene (Mendelian) Disorders
Repeat Expansion Disorders
Imprinting & Chromatin Disorders
Mitochondrial Disorders
Inborn Errors of Metabolism
Multifactorial & Congenital Anomalies
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Cross-cutting high-yield patterns
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