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-Missing a homologous pair on sex - 15-20% Chromosomal

-Short stature
chromosome Abnormality
- Female Genitalia abnormalities
> Could be all or a part is missing -NON-disjunction during cell -IQ is normal, but often have Michael
- Sterility ~ absence of ovaries trouble with spatial &
-Sex chromosome aneuploidy division
-Webbing of neck (50%) Chau
- (45, X, __) - Loss of PATERNAL X mathematical reasoning
-Widely spaced nipples -Amenorrhea
Turner
-Only females are affected chromosome from sperm
-Edema in newborn feet -Coarctation of aorta (15-20%) Syndrome
-1:2500 female births -Random error
-Sparse body hair
-In utero 99% lethal -Exact cause is unknown
-X chromosome often from maternal -Malformation of
chromosome aortic valvular,
-Mosaicism: error during cell division, which aortic arch,
some cells have or don't have correct Etiology/Causes pulmonary venous,
chromosomes ventricular septal
**Determines the degree of manifestation defects
Genetics
-Hypoplastic left
Common Findings heart syndome
-Aortic dilation &
Cardiovascular
disection during
- NOT shown to be age
Pathophysiology pregnancy
related
- Familial pattern NOT Risk & Etiology
shown to be a factor Factors -Recurrent otits
media and middle
Hearing ear effusions
Turner Complications -Progressive
sensorineural

Syndrome hearing loss due to


outer hair cells of
- During teenage years to lower middle ear
enhance growth & -Cholesteatoma:
Development Infertility abnormal middle
- Prevent osteoporosis ear growth

-Estrogen
Treatment Autoimmune & - Under-developed
Therapy
Management Diagnostic Tests Metabolic ovaries~hypogonadism
-Amenorrhea
Osteoperosis
-Growth
hormone -Monitor & - Amniocentesis : Removal of
therapy Follow Up for amniotic fluid from the
-Cardiac -In-vitro complications amniotic sac of expecting
- Hashiomoto
If less than 5th percentile, surgery or fertilization mother for chromosomal
Thyroid
growth hormone can be managment analysis
- Due to estrogen -Hypothyroid
prescribed to improve stature - Chronic villus sampling
deficiency -Diabetes
(CVS ): Removal of tissue
-Highly
from placenta of expecting
For heart susceptible to
If sterile mother for chromosomal
defects & fractures
and trying to analysis
hypertension -Scoliosis
conceive -Karyotyping : test used to
management
analyze chromosome of
cells. **Confirms Diagnosis

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