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Genetic Counseling
Introduction
 
Archives
Bartsocas-Papas Syndrome
Neu laxova
Robert's Syndrome
Meckel Gruber Syndrome
Golden har
Achondrogenesis
Lethal Pterygium syndrome
Turner's Syndrome
Morquio Syndrome
Ellis-van Creveld syndrome
Femoral hypoplasia
   
     
  Turner's Syndrome  
     
 
Synonyms
Lethal popliteal Ptergium syndrome
Ullrich - Turner syndrome
 
Clinical
Chracteristic physical featuresinclude congenital lymphoedema of hands and / or feet, short stature, short / webbed neck, low posterior hairline, cubitus valgus, nail hypoplasia, broad chest, infertility, left sided cardiac anomalies. Similar phenotype in XX / XO mosaic, XdeIX, XiX.
46XX / 45X+mer (mar may be Y der) at risk of malignancy. Presence of Y chromosome sequences predisposes to gonadoblastome formation with risk of 15 - 25% (Patsalis).
rX and uniparental and functional X disomy, associated with mental retardation.
Critical region Xcen-p11 (Therman).
 
     
  Traits  
 
Chromosomal abnormality on karyotype
Chromosome X
Hydrops fetalis +/- ascites / pleural effusion
Small for gestational age (IUGR)
Generalised obesity
Short stature - prenatal / intrauterine dwarfism
Abnormal scarring
Loose skin / lax skin
Triangular face
Low hairline - back
Ptosis
Cataract
Myopia
Downturned mouth
Short neck
Abnormally placed nipples
Brachydactyly
Scoliosis
Aortic stenosis
Hyperthyroidism
Tibiae absent
Fused carpal bones
Abnormal metaphyses
Gonadal malignancy
Streak gonads
Osteopenia / diffuse osteoporosis / coarse bone trabec