College of Health and Medical Science

Department of Clinical Midwifery

Neonatology : presentation on genetic disorder

by : Marwan Kamal
Id no : sgs/1102/2014
Submitted to : Dr Maleda ( PHD) and Gananaw. A ( A/prof.)
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 Outline
 Introduction
 Down syndrome

 Turner syndrome

 Kleinfelter syndrome
 Edward syndrome

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 Objectives
At the end of this session you should be able to :
 Describe chromosomal abnormality
 Explain down syndrome

 manage down syndrome

 Explain turner syndrome

 Describe Kleinfelter syndrome

 Explain Edward syndrome

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 Genetic Disorders

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Introduction

 Almost every cell in our body contains 23 pairs of

chromosomes, for a total of 46 chromosomes.
 Half of the chromosomes come from our mother, and the
other half come from our father.
 The first 22 pairs are called autosomes.
 The 23rd pair consists of the sex chromosomes, X and Y.
 Females usually have two X chromosomes, and males
usually have one X and one Y chromosome in each cell.
 All of the information that the body needs to grow and
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develop comes from the chromosomes
 Chromosomal Abnormalities

1)Numerical abnormalities:
A. Autosomal chromosomes (trisomy &monosomies).
B. Sex chromosomes (trisomy & monosomies).

2) Structural abnormalities : this includes

deletion, translocation & inversion

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 1.Numerical Aberration
• Autosomal

- Trisomy: 1 chromosome extra (e.g. trisomy of

21,13,18 chromosomes)
- Monosomies: 1 chromosome is missing
• Sex chromosome

- Kleinfelter syndrome (47, XXY male)

- Turner syndrome (45, XO female)

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 2.Structural abnormalities
1) Translocation : the transfer of a chromosome or a
segment of it to a non-homologous chromosome.
2) Deletion : loss of a portion of a chromosome.

3) Ring chromosome: it has ring like structure

4) Duplication : extra piece of a chromosome.

5) Inversion : fragmentation of a chromosome followed
by reconstitution with a section inverted.
6) Isochromosomes : division of chromosome at
centromere transversely instead of longitudinally
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common chromosomal abnormality
Down syndrome
Incidence :
• The most common chromosomal aberration

• Incidence 1/700 live birth & 10 % of Mortality rate

Definition : It is trisomy of 21 chromosome

i.e. the cell contain an extra chromosome three 21
chromosomes instead of two .
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 Types of Down Syndrome?
There are three types of Down syndrome: Trisomy 21 (nondisjunction),
Mosaicism, and Translocation. Below is a chart that outlines the cell division
process of regular cells.

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1) Trisomy 21 (Nondisjunction)

Down syndrome is usually caused by an error in cell division called

“nondisjunction.” Nondisjunction results in an embryo with three copies
of chromosome 21 instead of the usual two. Prior to or at conception, a
pair of 21st chromosomes in either the sperm or the egg fails to separate.

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2) Trisomy 21 (Nondisjunction)
 Down syndrome is usually caused
by an error in cell division called
“nondisjunction.”
 Nondisjunction results in an embryo
with three copies of chromosome 21
instead of the usual two.
 Prior to or at conception, a pair of
21st chromosomes in either the
sperm or the egg fails to separate

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3) Mosaicism
 Mosaicism (or mosaic Down
syndrome) exists when there
are a mixture of two types of
cells, some containing the
usual 46 chromosomes and
some containing 47.

 Those cells with 47

chromosomes contain an extra
chromosome 21.

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 Features of Down Syndrome
• Malformed large ears
• Short height
• Severe mental • Epicanthal folds of the eyes
deficiency with decline • Brush field spots in iris
in the IQ with age
• Renal anomalies
• Brachiocephaly with flat
face and occiput • Prominent and protruding
• Flat and low nasal tongue (scrotal tongue)
bridge
• Simian crease
• Upward slant to
palpebral fissures
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 Associated congenital anomalies include
 congenital heart disease(40-50%)
 GIT anomalies(as duodenal atresia)
 cryptorchidism
 cataract
 strabismus
 congenital hypothyroidism(2%)
 hearing loss
 leukemia(20 times commoner).

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• Triple test ( low estriol, low maternal serum alpha-
fetoprotein and elevated HCG) is often associated with
chromosomal syndromes; 15-18 weeks

• Quad screen (quad test): Triple test + inhibin A (↑ )

• Ultrasonography: nuchal thickening; 11-14 weeks

• Amniocentesis: chromosomal analysis; 15-18 weeks

• Chorionic villous sampling: chromosomal analysis;

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1) Karyotyping = chromosomal study
• To establish diagnosis

• To determine genetic type for genetic counseling &

prognosis
2) Chest X - ray & echocardiography

for suspected congenital heart disease.

3) Others : hearing and vision testing and checking

thyroid profile due to increased risk of hypothyroidism
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 Management
• Supportive care :

1- Proper nutrition & medical care to diagnose and

manage possible complications.

2- Special social & educational care in specialized

institutes like speech therapy aiming to make the child
as independent as possible

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 Turner syndrome
Cytogenetics: 45, XO, FEMALE
Incidence: 1/5000
Features
• Lymphedema of hands and feet in newborn
• Short stature
• Webbing of neck
• Wide carrying angle
• Gonadal dysgenesis (1ry amenorrhea)
• Renal anomalies and cardiac anomalies
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 Cont.…

At Birth .. Edema of dorsum of hand & feet

.. Webbing of neck.

Childhood period
 Short stature

 Head : Low posterior hairline

 Neck :Webbing of the neck

 Chest : Broad chest & wide spaced nipples

 Limbs : Citus valgusBY: Marwan kamal

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 Cont.….

Adolescence

- Failure of development of 2ry sex characters

- 1ry amenorrhea (streaked ovary)

- Normal mentality, Some learning disability

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 Cont.…

Associated anomalies & complications:

1. Cardiac anomalies: Bicuspid aortic valve – AS
- coarctation of aorta
2.Renal anomalies: Horseshoe kidney
3.Ear: Recurrent OM – SNH loss

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 Turner Syndrome, webbed neck

Lymphedema

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 Treatments of turner syndrome

• Growth hormone therapy

• Estrogen replacement for development of
secondary sexual characteristics at the time
of puberty (but infertility persists)

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 Kleinfelter Syndrome

• Trisomy of sex
chromosome - XXY
(An additional X
chromosome in males)
• Occurrence – 1 in 500-
1000 males

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 Features of Kleinfelter Syndrome
• Tall , Comparatively low weight relative to stature
• Infertility , Sexually underdeveloped

• Sparse facial and body hair

• Developmental delays

• Increased risk of autoimmune disorders, breast cancer,

osteoporosis, leg ulcers, depression, and dental problems
• Larger craniofacial dimensions

• Severe acne in adolescence

• Behavior problems Learning disabilities

•03/10/2023
Slightly lower IQ than normal
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 Kleinfelter syndrome

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References
1) the clinical assessment and management of children, young people and adults
with Down Syndrome: recommended clinical practice: New Zealand Ministry of
Health, 2001.
2) Rosen T, D'Alton ME. Down Syndrome screening in the first and second
trimesters: what do the data show? Semin Perinatol 2005;29:367-75.
3) Christensen RD. Hematological problems in the neonate. 1st ed. Phil: W.B.
Saunders Co, 2000.

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