Sex-Linked

Chromosomal
Abnormalities

Leslie Sorenson, Madalyn Jackson-Sullivan,

Carlyn Morones, Blair Nelson, and Annie Yu
Agenda/Overview

● Turner Syndrome
● Klinefelter Syndrome
● Other Chromosomal Variation
Syndromes

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 But first, what are
1 chromosomes?

3
 Chromosome

◉ A chromosome holds DNA molecules in a

twisted thread-like structure.

◉ Typical development:
○ 46 chromosomes (23 pairs)
○ 23rd pair determines sex

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1 Turner Syndrome
Female (X)

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 Description
◉ Occurs when:
○ One X chromosome is present and the other
is missing or structurally altered
○ Affects development before & after birth
○ Prenatal

◉ Variations:
○ ~50% have Monosomy X (45,X)
○ ~30% have Mosaicism (46,XX)

◉ Diagnosed by:
○ Karyotype blood test at birth or puberty
○ After age 50 requires additional testing
National Institute of Health, 2018; The Turner Syndrome Society of the U.S. 6
 Description
◉ Physical Features
○ Short stature (age 5), webbed neck, low hairline at the back of the neck, swelling
of hands & feet, skeletal abnormalities
○ Facial: Down turning eyelids, low set prominent ears, small jaw, high roof of
mouth

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National Institute of Health, 2018; The Turner Syndrome Society of the U.S.
 Description
◉ Other Features & Medical Concerns
○ Loss of ovarian function
○ Born with heart defect
○ Liver and kidney abnormalities
○ Hearing loss
○ Chronic ear infections
○ Autoimmune disorders

◉ Cognitive functioning
○ Normal intelligence
○ Developmental delays, nonverbal communication
difficulties, and behavioral problems
○ Difficulty with spatial relationship
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National Institute of Health, 2018; Turner Syndrome Society of the U.S.
 Epidemiology
◉ Prevalence: 1 in 2500 newborns worldwide
○ Difficult to obtain due to missed and delayed diagnosis
○ Pregnancies usually end in miscarriages and stillbirths

◉ Equally affects all race and regions of the world

○ There are no known environmental risks

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National Institute of Health, 2018; The Turner Syndrome Society of the U.S.
 Etiology
◉ Causes
○ Most not inherited; random error in cell division
○ Monosomy X: random event during the reproductive cell makeup in the
affected person’s parent
○ Mosaicism: random event during cell division
○ Rarely, TS caused partial deletion of one X chromosome can be passed on

◉ Risk Factors
○ The age of a parent, ethnicity, diet, or other factors are unrelated to the
conception of a child with Turner syndrome.

◉ Gene
○ SHOX: Short stature homeobox
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National Institute of Health, 2018; The Turner Syndrome Society of the U.S.
2 Klinefelter Syndrome
Male (47, XXYY)

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 Description

◉ Males with extra X chromosome

(XXY)

◉ Physical differences

◉ Cognitive, motor, and speech-

language challenges

Davis, 2017; Turriff, 2017; Jensen, 2011 12

Epidemiology

◉ 1:650 live male births

◉ Only 25-35% of XXY males are diagnosed in
their lifetime
◉ In studies there are more white XXY
participants than other groups, but this does
not mean that KS affects groups differently.

Davis, 2017 13
Etiology

◉ Genetic abnormality
◉ No risk factors, cannot be prevented
◉ Does increase risk for other issues in learning,
development, and reproduction.

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 Other Chromosomal
3 Variation Syndromes

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 Description
48, XXYY
◉ Occurs in males.
◉ Disrupts sexual and physical
development.
◉ At risk for type 2 diabetes,
heart conditions, deep vein
thrombosis, seizures and
heart disease.
◉ IQ between 70-80
◉ Difficulties with language and
speech development.
◉ Delayed motor skills.
◉ Higher rates of behavioral
disorders.
47, XXX (Triple X)
◉ Presence of a third X
chromosome in each of a
female’s cells
◉ May be taller than average
◉ Normal sexual development
and fertility
◉ Increased risk of learning
disabilities and delayed
development
◉ Confirm diagnosis via
chromosomal
analysis/karyotyping or
chorionic villus sampling
(CVS)
National Institute of Health [NIH], 2018a; NIH, 2018b; NIH, 2018c
47, XYY
◉ Presence of a third Y
chromosome in each of a
male’s cells
◉ Similar physical, cognitive,
and sexual development as
Triple X
◉ Increased risk for anxiety or
mood disorders, ASD, or
ADHD
◉ More behavioral problems
◉ Same diagnosis process as
Triple X
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 Epidemiology

48, XXYY 47, XXX (Triple X) 47, XYY

◉ There is an annual ◉ 1 in 1,000 newborn girls
incidence of 1/18,000 to ◉ 5 to 10 girls with Triple X
1/50,000 male births. born in the U.S. each day
◉ Only 10% of females with
Triple X are actually
diagnosed
◉ 1 in 1,000 newborn boys
◉ 5 to 10 boys with 47,XYY
are born in the U.S. each
day
.

National Institute of Health [NIH], 2018a; NIH, 2018b; NIH, 2018c 17

 Etiology
48, XXYY
◉ Not inherited.
◉ Low recurrence.
◉ Occurs as a random during
the formation of reproductive
cells
◉ Abnormal sperm from the
father.
◉ Probable that it results from
the nondisjunction during the
first or second meiotic
division.
◉ No known cause or
predisposition for this
syndrome.
47, XXX (Triple X) 47, XYY
◉ Causes ◉ Causes
○ Random error during ○ Random error during
formation of sperm cell formation
reproductive cells or ○ Not inherited
during cell division
○ Not inherited
◉ Risk Factors
○ Advanced maternal
age
National Institute of Health [NIH], 2018a; NIH, 2018b; NIH, 2018c 18
Treatment

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 Turner Syndrome

No Cure
Growth Hormone
◉ May improve growth, increase final adult height
Estrogen Replacement Therapy
◉ Helps complete puberty
Cardiac Surgery
◉ May be necessary for comorbid heart defects
Reproductive Technologies
◉ In vitro fertilization for those wishing to be mothers

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Ross, 2017
 Klinefelter Syndrome

No cure.
Advanced Reproductive Technology (ART)
◉ ½ of XXY men can have a biological child with this treatment

Genetic testing for diagnosis

◉ 10% diagnosed prenatal, 6% in childhood and adolescents, 19% diagnosed as an adult

Interventions and therapy

◉ 80% of school-age boys with XXY require an IEP/504 plan for speech-language and/or reading
concerns

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Davis, 2017
 48,XXYY/47,XXX/47,XYY

48, XXYY 47, XXX (Triple X) & 47, XYY

◉ No cure ◉ No cure for either
◉ Treatment should include a ◉ Treatment options include:
multidisciplinary team to properly address ○ Early intervention services
and manage issues such as: (speech, occupational,
○ Heart defects physical therapy)
○ Skeletal anomalies ○ Periodic screenings or
○ Sensory, neurological, hormonal, developmental
metabolic, respiratory, issues assessments
○ Psychological and psychiatric care.
○ Digestive problems
○ Dental problems

National Institute of Health [NIH], 2018a; NIH, 2018b; NIH, 2018c 22

Education

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 In the Schools
◉ Students with sex-linked chromosomal abnormalities
○ May or may not need a 504 plan, IEP, or BSP
○ Every case is different

◉ Modified Core Curriculum/Accommodations

○ Extended test time, tape recorded lessons, modified PE
○ Use of manipulatives for math

◉ Other School Interventions

○ PT, OT, Speech, Counseling
○ Social Skills Training
○ Resource room for extra support
○ Time Management Training 24
GEMSS, 2017; The Turner Syndrome Society of the U.S.
Resources

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 Resources

Turner Syndrome CHOC - Children’s, https://genetic.org

Foundation
They have a Facebook
group and a list of
specialized centers of care
with a myriad of resources
and volunteer
opportunities.
◉ https://turnersyndromefound
ation.org
Orange County
CHOC provides many
areas within pediatric
health care, such as
genetic services.
◉ https://www.choc.org/progra
ms-services/genetics/#what-
we-treat
This website provides
an array of support
groups and outside
resources for parents
and children dealing
with any type of
chromosomal disorders.

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 Resources

Klinefelter Syndrome Unique: UK Charity

NORD Although this charity is
(National Organization for Rare Diseases)
located outside the US,
Provides information and resources
https://rarediseases.org/rare- its website has great
diseases/klinefelter-syndrome/ information for families
and professionals.
AXYS ◉ https://www.rarechromo.
National support group serving all X org/
and Y variations
https://genetic.org/im-medical-
professional/support-groups/

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 Kahoot!
Good luck!!
https://play.kahoot.it/#/k/91d5b6b9-68a1-463e-
b53c-55e2ff1cb61b
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Thanks!
Questions ?

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 References
Corsini, C., Sarda, P. (2011, May). 48, XXYY . Retrieved from
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=10.

Genetics Education Materials for School Success (GEMSS). (2017). Education Supports. Retrieved from
https://www.gemssforschools.org/conditions/turner/ed-supports

National Institute of Health. (2018a). 47,XYY syndrome. Retrieved from

https://ghr.nlm.nih.gov/condition/47xyy-syndrome#gene

National Institute of Health. (2018b) 48,XXYY syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/48xxyy-syndrome#.

National Institute of Health. (2018c). Triple X syndrome. Retrieved from

https://ghr.nlm.nih.gov/condition/triple-x-syndrome

National Institute of Health. (2018d). What is a chromosome? - Genetics Home Reference - NIH. Retrieved from
https://ghr.nlm.nih.gov/primer/basics/chromosome

National Institute of Health. (n.d.). Turner syndrome - Genetics Home Reference - NIH. Retrieved from
https://ghr.nlm.nih.gov/condition/turner-syndrome#resources

Ross, J. L. (Ed.). (2017, September). Turner Syndrome. Retrieved from https://kidshealth.org/en/teens/turner.html

The Turner Syndrome Society of the United States. (n.d.). Retrieved from https://www.turnersyndrome.org/ 30