What is

Turner

Syndrome?

What is Turner Syndrome (TS)?

Turner syndrome is a chromosomal disorder characterized by a complete or partial absence of the second sex chromosome.

What is Turner Syndrome (TS)?

  • Chromosomal disorder

  • Affects one in 2,000 - 2,500 female births

  • Approximately 80,000 in United States

  • 800 new cases diagnosed each year

The Genetics of Turner Syndrome

Typical karyotype has 22 pairs of chromosomes and a pair of sex chromosomes.

  • Female karyotype: 46XX
  • Male karyotype: 46XY

A TS karyotype has:

  • Complete absence of one X: 45X or 45XO
  • Partial deletion of the second X
  • A combination of normal and abnormal chromosomes (mosaicism)

TS is a syndrome…what does this mean?

Definition of syndrome: a group of signs and symptoms that occur together and characterize a particular abnormality

TS is a variable condition and every girl and woman with TS is unique and no generalization will apply to everyone, no matter how accurate it is for the group.

Characteristics and Symptoms of TS

    • short stature
    • premature ovarian failure- infertility
    • heart defects – coarctation of the aorta, bicuspid aortic valve, aortic dilation
    • nonverbal learning disorder
    • webbed neck
    • broad chest
    • hearing loss
    • edema
    • frequent ear infections

    • increased number of moles
    • hypertension
    • thyroid dysfunction
    • kidney abnormalities
    • diabetes
    • weight issues
    • drooping eyelids
    • visual deficits
    • short 4th metacarpal/metatarsal
    • scoliosis

Diagnosis

  • In utero – often see cystic hygromas and hydrops, can confirm diagnosis with an amniocentesis

  • In childhood – no growth

or extremely slow growth,

heart or kidney defects,

chronic ear infections,

other health concerns

  • In adolescence – no

spontaneous puberty,

short stature

  • In adulthood -

infertility

Nonverbal Learning Disorder- NLD

  • Focus on details, difficulty seeing the main idea or the big picture, literal thinkers
  • Difficult reading facial expressions, gestures, or other nonverbal aspects of communication; miss the subtleties, nuances.

Nonverbal Learning Disorder (NLD)

  • May be inappropriate in social interactions, challenged to make and keep friends.
  • As adults women with TS and NLD tend to be underemployed relative to their educational experiences- often due to poor social communication skills.

How Does NLD Affect Success at School?

    • Difficulties with mathematics
    • Hyperactivity, inattention, distractibility, slowness
    • Difficulty with organization (lockers, turning in homework)
    • Social isolation in play settings

Learn more about Turner syndrome at

www.TSGAlliance.org.

What is Turner Syndrome ppt - Google Slides