Congenital-heamo-infectious

PEDIGREE

When constructing a pedigree, ask about miscarriages, stillbirths, and consanguinity. Take details from both sides of the family and record dates of birth rather than current ages.

No skipping is dominant
Skipping is autosomal recessive
Autosomal male and female affected
X-linked recessive, male only affected
X-linked dominant, females are affected

Inheritance Type	Key Characteristics	Chance of Inheritance	Affected Individuals	Examples of Disorders	Notes
Autosomal Dominant (AD)	- Affected individual carries the abnormal gene on one of a pair of autosomes. - Trait appears in every generation. - Males and females are equally affected. - Male-to-male transmission occurs.	- Each child of an affected parent has a 50% chance of inheriting the mutated gene. - Variation in expression, non-penetrance, new mutation, parental mosaicism, or homozygosity may occur.	- Affected individuals can have an affected parent or a new mutation. - Both sexes equally affected.	- Achondroplasia - Ehlers–Danlos syndrome - Familial hypercholesterolaemia - Marfan syndrome - Neurofibromatosis - Noonan syndrome - Osteogenesis imperfecta	- Traits generally involve mutations in genes coding for regulatory or structural proteins (e.g., collagen).
Autosomal Recessive (AR)	- Affected individuals are usually homozygous for the abnormal gene. - Each unaffected parent is a heterozygous carrier. - Risk varies between populations and is increased by consanguinity.	- If both parents are carriers, each child has a 25% chance of being affected.	- Affected children are usually born to unaffected parents who are carriers.	- Sickle cell disease - Thalassemia - Congenital adrenal hyperplasia - Cystic fibrosis - Friedreich ataxia - Galactosemia - Glycogen storage diseases - Hurler syndrome - Oculocutaneous albinism - Phenylketonuria	- Often affect metabolic pathways.
X-Linked Recessive	- Males are primarily affected. - Female carriers are usually healthy; occasionally show features of the disease. - Family history may be negative due to new mutations or gonadal mosaicism.	- Each son of a female carrier has a 50% risk of being affected. - Each daughter has a 50% risk of being a carrier.	- Daughters of affected males will all be carriers. - Sons of affected males will not be affected.	- Hemophilia A and B - Glucose-6-phosphate dehydrogenase deficiency - Color blindness - Duchenne muscular dystrophy - Fragile X syndrome	- Identifying female carriers is important for genetic counseling.
X-Linked Dominant	- Both males and females are affected. - Females carrying the mutation are affected; males have a more severe condition.	- Not specified, but typically involves affected females passing the mutation to offspring.	- Males with the mutation may have lethal conditions. - Females may have milder symptoms.	- Hypophosphataemic (vitamin D-resistant) rickets - Rett syndrome (in females)	- Unusual inheritance pattern compared to other types.

Karyotyping

13 14 15 18 21 are compatible to life are incompatible to life

Down syndrome (trisomy 21)

single palmar scar, kleniodactyl, sandal sign, flat occipital, hypothyroidism, constipitation, fatigue, liablity for leukemia

Meiotic Nondisjunction (94%):
Translocation (5%): translocation from 21 combination with 14 - may appear normal, with all chromosome intact, but abnormality in length, or combined with 21 it self.
Mosaicism (1%): In mosaicism, some of the cells are normal and some have trisomy 21.

Trisomy 18 (Edward Syndrome)

over riding fingers, rocker bottom feet

Trisomy 13 (Patau Syndrome)

Midline defect, eyes space, cleft.

Turner Syndrome (45X0)

webbed neck, edema foot at birth, everything widening.

Klinefelter Syndrome (47, XXY)

Large jaw, ear, truamas (iq) - Describe lymphedema, turned chromosomal analysis diagnosed condition.Z

William Syndrome (d 7q11.23)

Achondroplasia (Autosomal dominant)

Mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) on chromosome 4

Table

Syndrome	Craniofacial/Physical Features	Medical Problems	Inheritance/Genetics	Other Anomalies	Treatment/Management
Down Syndrome	Round face, flat nasal bridge, upslanted palpebral fissures, epicanthic folds, small mouth, ears	Delayed motor milestones, learning difficulties, short stature, infections, hearing/visual impairments	Meiotic nondisjunction (94%), translocation (5%), mosaicism (1%)	Short neck, single palmar creases, congenital heart defects, duodenal atresia, Hirschsprung disease	Supportive therapies, early intervention programs
Trisomy 18 (Edward Syndrome)	Microcephaly, high forehead, rocker bottom feet, clubfoot, overlapping fingers, hypoplastic nails	Apneic episodes, poor feeding, failure to thrive, intellectual disability, heart defects (VSD, ASD, PDA)	Risk of recurrence <1%, higher with increased maternal age	None specified	Supportive care, management of symptoms
Trisomy 13 (Patau Syndrome)	Cleft lip/palate, polydactyly, microcephaly, microphthalmia, scalp defects	Cardiac defects (PDA, VSD), genital anomalies, neural tube defects	Risk of recurrence <1%, higher with increased maternal age	Omphalocele, hernias	Supportive care, management of symptoms
Turner Syndrome (45X0)	Short stature, lymphedema, shield chest, webbed neck, low posterior hairline, rotated ears	Ovarian dysgenesis, cardiac defects (bicuspid aortic valve, coarctation of aorta), renal anomalies	Absence of one set of genes from the short arm of one X chromosome	Increased risk of hypothyroidism, celiac disease, inflammatory bowel disease, gonadoblastoma	Growth hormone, estrogen therapy
Klinefelter Syndrome (47, XXY)	Tall stature, gynecomastia, small penis, infertility, delayed secondary sexual characteristics	Language impairment, academic difficulty, osteoporosis, hypogonadism	47,XXY karyotype with variants	Increased risk of pulmonary disease, varicose veins, ADHD	Testosterone replacement therapy
Marfan Syndrome	Pectus carinatum/excavatum, wrist sign, scoliosis, high arched palate	Cardiovascular complications (aortic dilatation/dissection), ectopia lentis, dural ectasia	Autosomal dominant	Joint hypermobility, mitral valve prolapse, spontaneous pneumothorax, striae atrophicae	Annual echocardiogram, management of cardiovascular complications
William Syndrome (7q11.23)	Short stature, characteristic facies, periorbital fullness, prominent lower lip	Congenital heart disease (supravalvular aortic stenosis), learning difficulties, sensorineural hearing loss	Deletion at chromosome band 7q11.23	Transient neonatal hypercalcemia, strabismus, cataract	Supportive care, management of symptoms
Achondroplasia	Short stature, marked shortening of limbs, large head, frontal bossing, depression of nasal bridge	Hydrocephalus, marked lumbar lordosis	Mutation in FGFR3 gene on chromosome 4, autosomal dominant, 50% new mutations	None specified	Growth hormone, limb lengthening

Child 10 months old, doesnt eat well; poor feeding; sepsis, high fever. he had slight convulsion associated with vomitting.

febrile convulsion is exclusion not diagnosis

most important question is feeding. if child feeds well more like no abnormality.

meningitis image***C

gram stain takes 2 hours to check for organism

Category	Gram Stain Result	Organism	Description
Cocci	Blue (Positive)	Streptococci, Group A	Gram-positive cocci in chains; causes strep throat, skin infections, etc.
	Red (Negative)	Meningococci (Neisseria meningitidis)	Gram-negative diplococci; causes meningitis and other serious infections.
Bacilli	Red (Negative)	Tuberculosis (Mycobacterium tuberculosis)	Requires acid-fast stain due to waxy cell wall; presents atypically.
Cocco-bacilli	Red (Negative)	Haemophilus influenzae	Small, pleomorphic gram-negative bacteria; causes respiratory and invasive diseases.