Condition Lookup
Sub-Category:
Numerical Chromosomal Abnormalities
Number of Conditions: 7
Down syndrome (trisomy 21)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
distinct facial features (e.g., flat facial profile, small ears, upward slanting eyes); intellectual disability; delayed development; hypotonia (low muscle tone); short stature; congenital heart defects; increased risk of thyroid disorders and leukemia
Root Cause:
Presence of an extra copy of chromosome 21, resulting in trisomy.
How it's Diagnosed: videos
Prenatal screening (e.g., nuchal translucency scan, maternal blood tests), diagnostic tests (e.g., amniocentesis, chorionic villus sampling), and postnatal clinical examination confirmed by karyotyping.
Treatment:
Supportive care, developmental therapies (e.g., speech, physical, occupational therapy), and management of associated medical conditions (e.g., cardiac surgery for heart defects).
Medications:
No specific medications for the chromosomal condition; treatments target associated conditions such as thyroid hormone replacement (levothyroxine ) for hypothyroidism.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 700 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced maternal age, family history of Down syndrome, previous child with Down syndrome.
Prognosis:
The expected outcome or course of the condition over time.
Varies; life expectancy has increased significantly with medical care, now averaging around 60 years.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Congenital heart defects, respiratory infections, thyroid dysfunction, Alzheimer’s disease in later life.
Edwards syndrome (trisomy 18)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
severe intellectual disability; microcephaly; low birth weight; clenched fists with overlapping fingers; rocker-bottom feet; congenital heart defects; feeding difficulties
Root Cause:
Presence of an extra copy of chromosome 18, resulting in trisomy.
How it's Diagnosed: videos
Prenatal screening (e.g., non-invasive prenatal testing, ultrasound findings), diagnostic tests (amniocentesis or chorionic villus sampling), and postnatal karyotyping.
Treatment:
Supportive care, palliative measures, and management of specific symptoms (e.g., feeding support, surgical repair of heart defects if feasible).
Medications:
No specific medications; treatments are symptomatic. For associated conditions, antibiotics for infections or anticonvulsants for seizures may be used.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 5,000 live births; higher incidence in pregnancies, but most are lost prenatally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced maternal age.
Prognosis:
The expected outcome or course of the condition over time.
Poor; most affected infants die within the first year of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure, severe developmental delays, feeding difficulties, and congenital abnormalities.
Patau syndrome (trisomy 13)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
severe intellectual disability; microcephaly; cleft lip and/or palate; polydactyly; congenital heart defects; kidney abnormalities; holoprosencephaly (failure of the brain to divide properly)
Root Cause:
Presence of an extra copy of chromosome 13, resulting in trisomy.
How it's Diagnosed: videos
Prenatal screening, diagnostic tests (amniocentesis or chorionic villus sampling), and postnatal karyotyping.
Treatment:
Supportive care, palliative measures, and management of individual symptoms.
Medications:
Symptomatic treatments only; anticonvulsants for seizures and antibiotics for infections may be used.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 10,000 to 20,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced maternal age.
Prognosis:
The expected outcome or course of the condition over time.
Very poor; median survival is about 7 to 10 days, with most affected infants dying within the first year of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe developmental delays, feeding difficulties, and organ malformations.
Turner syndrome (45, X)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
short stature; webbed neck; amenorrhea; infertility; broad chest with widely spaced nipples; coarctation of the aorta; low-set ears; learning difficulties
Root Cause:
Missing or partially missing X chromosome in females.
How it's Diagnosed: videos
Prenatal testing (e.g., amniocentesis), clinical features, confirmed by karyotyping.
Treatment:
Growth hormone therapy, estrogen replacement therapy, and management of associated conditions.
Medications:
Growth hormone (somatropin ), estrogen, and progesterone replacement therapies.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 2,000 live female births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Not typically associated with maternal age.
Prognosis:
The expected outcome or course of the condition over time.
Normal lifespan with appropriate treatment, but may have complications like infertility and cardiac issues.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Osteoporosis, cardiovascular disease, infertility.
Klinefelter syndrome (47, XXY)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
tall stature; reduced muscle mass; gynecomastia (enlarged breast tissue); small testes; low testosterone levels; infertility; learning difficulties; delayed puberty
Root Cause:
Presence of an extra X chromosome in males.
How it's Diagnosed: videos
Karyotyping, blood hormone levels (low testosterone, high FSH/LH), clinical examination.
Treatment:
Testosterone replacement therapy, speech and physical therapy, fertility treatment (e.g., assisted reproductive technologies).
Medications:
Testosterone (androgen replacement therapy).
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 600 to 1,000 live male births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced parental age slightly increases the risk.
Prognosis:
The expected outcome or course of the condition over time.
Normal life expectancy with appropriate treatment; infertility is common but can be managed in some cases.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Osteoporosis, metabolic syndrome, cardiovascular issues, and psychological challenges such as anxiety or depression.
Triple X syndrome (47, XXX)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
tall stature; mild developmental delays; learning difficulties; delayed speech and motor skills; anxiety or emotional challenges; infertility (rare)
Root Cause:
Presence of an extra X chromosome in females.
How it's Diagnosed: videos
Karyotyping, genetic testing, and sometimes incidentally during evaluations for other conditions.
Treatment:
Supportive therapies such as speech therapy, educational support, and counseling for emotional or social challenges.
Medications:
No specific medications for the chromosomal condition; symptomatic treatments as needed.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 1,000 live female births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
No specific known risk factors.
Prognosis:
The expected outcome or course of the condition over time.
Normal life expectancy; most affected individuals have normal fertility and lead typical lives with some support.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Learning disabilities, psychological challenges, and rarely infertility.
XYY syndrome (47, XYY)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
tall stature; mild learning disabilities; speech delays; behavioral challenges (e.g., impulsivity, attention difficulties); normal sexual development and fertility
Root Cause:
Presence of an extra Y chromosome in males.
How it's Diagnosed: videos
Karyotyping, genetic testing, and clinical assessment.
Treatment:
Supportive therapies such as speech and occupational therapy, educational support, and behavioral interventions.
Medications:
No specific medications for the chromosomal condition; symptomatic treatments as needed (e.g., ADHD medications if necessary).
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 1,000 live male births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
No specific known risk factors.
Prognosis:
The expected outcome or course of the condition over time.
Normal life expectancy and fertility; most individuals lead typical lives with some developmental support.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Learning disabilities, behavioral challenges, and emotional difficulties.