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Pathology Cytogenetic Disorders 299fe8fd

All the following are characteristic of Turner Syndrome EXCEPT:

A
Webbing of Neck
B
Cubitus valgus
C
Umbilical Hernia
D
Coarctation of Aorta
High-Yield Explanation
ANSWER: (C) Umbilical HerniaREF: Robbins 7th edition page 179, http://en.vrikipedia.org/wiki/Turner_syndromeTurner syndrome or Ullrich-Tumer syndrome (also known as 'Gonadal dysgenesis") encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absentClinical features:Short statureLymphedema (swelling) of the hands and feetBroad chest (shield chest) and widely spaced nipplesLow hairlineLow-set earssmall kwer jaw (micrognathia)cubitus valgus (turned-in elbows)soft upturned nailspalmar creaseReproductive sterilityRudimentary ovaries gonadal streak (underdeveloped gonadal structures that later become fibrosed)Amenorrhoea, or the absence of a menstrual periodIncreased weight, obesityShield shaped thorax of heartShortened metacarpal IVSmall fingernailsWebbed neck from cystic hygroma in infancyCoarctation of the aortaBicuspid aortic valvePoor breast developmentHorseshoe kidneyVisual impairments sclera, cornea, glaucoma, etc.Ear infections and hearing lossHigh waist-to-hip ratio (the hips are not much bigger than the waist)Attention Deficit/Hyperactivity Disorder or ADHD (problems with concentration, memory, attention with hyperactivity seen mostly in childhood and adolescense)Nonverbal Learning Disability (problems with math, social skills and spatial relations)

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