Triple X Syndrome

Agenda

What is it?

Cause

Transmission

Symptoms

First Case

Test and Diagnosis

Treatment

What is Triple X?

Trisomy X / Triplo X

XX (Girl) , XY (Boy)

1 in 1000 females

Females only

Cause

46 chromosomes

22 pairs + 2 sex chromosomes

Mother = X , Father = X or Y

Non-disjunction

46 XXX,47 XXX

Transmission

Cannot be transmitted

Cannot be inherited

Non-disjunction

1% when 38 years old

Symptoms

Taller than average

Small heads

Epicanthal folds

Infertility

Hypotonia

Hyperterlorism

Abdominal pains

Scoliosis

Symptoms

Learning disability

Speech/Language

Delayed motor skills

Low self esteem

Psychological problems

Anxious and shy

Seizures

Kidney Failure

Symptoms

Most have no symptoms / signs

Barr Body

Inactive X chromosome
Female somatic cell

Lyonization (X-Inactivation)

Falcultative heterochromatin (Silenced)

Euchromatin (Expressed)

First Case

Patricia A. Jacobs (1959)

35 year old girl

Super female

Bernard Lennox

Tests and Diagnosis

Amniocentesis

Chorionic Villus Sampling

Blood Test

Denmark

1970-84 (76%)

1985-87 (56%)

Amniocentesis

Chorionic Villus Sampling

Tests and Diagnosis

Amniocentesis

Chorionic Villus Sampling

Blood Test

Denmark

1970-84 (76%)

1985-87 (56%)

Treatment

There is no cure

Based on symptoms

Counseling

Pediatric psychologist

Periodic doctor screenings

Support groups