EMBRYOLOGY

o Gregor Mendel – father of genetics

o Genetic Laws
o Segregation
o Assortment
o 46 chromosomes = 44 autosomes + 2 sex chromosomes (X/Y)
o Paired, 1 from father, 1 from mother
o Similar – alleles
o Disimilar – non-alleles
o Dominant gene – expressed even if only 1
o Recessive gene – expressed only if 2
o Pedigree for consultand or counseltee (approaches you)
o 3 generations – I, II, III
o Sex using symbols: circles (♀), squares (♂) or diamonds (unknown), numbers inside symbol = quantity
o Marriage – solid horizontal line, Illegitimate – dotted line, Consanguinous – double line
o Index patient – pointed by arrow
o Others:
 Cancer – dot inside symbol
 Heterozygote – half-shaded symbol, homozygote – shaded symbol
 Dizygotic twins – diagonal branching from parents
 Monozygotic twins – diagonal branching from parents with line between them
 Dead (at birth?) – line from parent has dash
 Degree of affinity – 1° (father, mother), 2° (aunts, uncles), 3° (cousins)

Autosomal Dominant Inheritance

1. Affected person has affected parent, except with mutations
2. Affected person’s offspring have 50:50 normal and affected proportion
3. Normal children of affected parent usually has normal offspring
4. Considerable variation of clinical severity of disease, both sexes affected

Recessive Inheritance
1. appears in sibs
2. 25% chance
3. for rare disease, consanguineous, common conditions = unrelated
4. both sexes affected

X-Linked dominant
1. at least 1 parent affected
2. Both sexes affected
3. Affected ♀ transmits to half of her daughters and half her sons
X-Linked Recessive
1. Both sexes affected
2. Homozygous ♀ = all sons affected, all daughers heterozygous
3. Heterozygous ♀ = half of sons, half opf daughters
4. Affected ♂ = transmit to all daughters (as carriers), none to sons
Y-Linked / Holandric
1. males only
2. Transmitted to all sons, none to daughters
Autosomal Disorders
o Cytogenetics – chromosomes and abnormalities
o Sample collection: Blood / bone marrow  trigger mitosis  stop growth  add saline  arrange chr by size

Syndrome Notes
Aneuploidy alteration in chr number
1.5/1000 births, round fascies, widespaced eyes, epicanthal folds, upturned snub nose, ↑ congenital
Down’s heart disease, smean crease, change in hands and feet, dermal ridge, mental retardation, max age
(Trisomy 21) of 50’s
Due to late maternal age (eggs are as old as mother), Chr 21 non-disjunction = 3 Chr21
Pataus 0.1/1000 births, 3 Chr13, holoprosencephaly, severly mentally retarded, shorter lifespan, death at
(Trisomy 13) infancy
Edward 0.2/1000 births, 3 Chr18, poorly developed lower jaw, abnormal ears, triangular face, flexion
(Trisomy 18) deformities of the wrist, severed CHD, shorter lifespan
Structure deletion, translocation, ring chr
Cri-du-chat Deletion of Chr5p (short arm), peculiar cry (meow) due to larynx softerning (laryngomalachia) but
(Delete Chr 5) eventually normalizes, hypertonic, peculiar fascies, mentally retarded
Wolf’s Deletion of Chr4p (short arm), facial asymmetry, micrognathia, mental retardation, hypertonicity,
(Delete Chr 4) hypospadias, seizures

Sex Chromsome Abnormalities

Syndrome Notes
Phenotypic Males Phenotypic Females

Infantile uterus, cubitus valgus, webbed neck, short stature, low hairline, shield-like chest,
Turner’s high arch palate, low set ears, fish mouth, hypoplastic nipples, lymphedema of hands / feet,
(XO) coarctation of aorta, abnormal auricle, loose neck folds (neonatally), no 2ndary sex
characteristics, no ovarian follicle elements, false accessory ovaries
Trisomy X Tall, good-looking, slight mental slowness, skeletal abnormalities, prone to psychiatric
(XXX) illness
Poly X (> 3) Multiple anomalies, mental retardation, more X = more problems
Tall, sexual infantilism, long extremities, undescended testes, hypospadia, infertility, sparse
Kleinfelter’s pubic hair, testicular pathology (hyalinization, sclerosis, obliteration of seminiferous tubules,
(XXY) azospermia)
Poly X(Y) = multiple anomalies, mental retardation
XXY Seizure disorders, sociopathic personality
Intersex Mosaic (XX/XY), Mosaic (XO/XY), Mosaic (XO/XX/XXYY/XXXXY)

Hermaphrodite
o True Herms – Male or Female Habitus (ovotestis (ovary with seminiferous tubules), hypertrophied clitoris (penis-like))
o Pseudo Herms – vagina opening into perineum, bifid scrotum, has penis, hypoplastic testis
o Negative Male (XY) – female, vagina ends blindly
o Virilism + Marked Hirsutism – female, hairy, adrenal cortex hyperplasia, hypertrophied clitoris, urethrovaginal
meatus (vagina opens into urethra), hypoplastic ovary