Autosomal Aneuploidy disorders:

The term "trisomy" is used to describe the presence of 3 chromosomes, rather than the usual pair of
chromosomes. For example, if your baby is born with 3 #21 chromosomes, rather than the usual pair,
your baby would be said to have "trisomy 21." Trisomy 21 causes Down syndrome. Other examples of
trisomy include trisomy 18 and trisomy 13. Again, trisomy 18 or trisomy 13 simply means there are 3
copies of the #18 chromosome (or of the #13 chromosome) present in each cell of the body, rather than
the usual pair.

Trisomy 21 – Down Syndrome

Trisomy 21 is caused by an extra chromosome 21. It is the most frequently occurring chromosomal
abnormality, occurring approximately once in every 700-800 live births. Non-disjunction from GHR,
accounts for approximately 95% of all cases of Trisomy 21. Translocation from GHR accounts for 3-4 %
and mosaicism from GHR, accounts for the remaining 1%. Because 1/3 of Down syndrome individuals
with a translocation can have a parent who is a translocation carrier, it is imperative to obtain a
karyotype on all individuals with Trisomy 21. Specifically, the recurrence risks for a translocation carrier
to have another child affected with Trisomy 21 are significantly higher than those caused by non-
disjunction. The recurrence risk can range anywhere from 1-100% for different types of translocations
depending on the sex of the carrier and the chromosome involved.

The diagnosis of Trisomy 21 is typically made in the newborn period. Infants with this syndrome have
very distinctive characteristics.

Craniofacial characteristics: brachycephaly from MedicineNet (MN), flat facial profile, up-slanting
palpebral fissures, epicanthal folds, low-set ears with a squared-off upper helix (box-shaped ears),
protruding tongue, excess skin on the back of the neck (nuchal skin)
Extremities: brachydactyly from MN, clinodactyly from MN, single transverse palmar creases, widened
gap (sandal gap) between the 1st and 2nd toes.
Other clinical problems associated with Trisomy 21 include:

Developmental delay - all Trisomy 21 individuals have mental retardation with an average IQ of 50-60
and a level of functioning equivalent to an 8-year-old child.
Hypotonia - this leads to poor feeding and contributes to developmental delay
Hypothyroidism - difficult to detect in an infant with hypotonia
Congenital heart defects: Atrioventricular septal defects, VSD, ASD, PDA, and other complex heart
defects
Intestinal problems: duodenal atresia, Hirschsprung disease
Leukemia: increased risk over the general population
Vision problems - congenital cataracts, strabismus, myopia or hyperopia
Hearing problems - increased frequency of ear infections
Average life span is about 50 years. Medical complications resulting in premature death relate to heart
defects, leukemia, and early-onset Alzheimer disease.

Trisomy 18 – Edwards Syndrome

Trisomy 18 is caused by an extra chromosome 18. It is the second most common trisomy after Trisomy
21, occurring approximately once in every 6,000 to 8,000 births. Over 95% of infants with Trisomy 18
syndrome will have a full trisomy while the remainder will have a trisomy due to a translocation from
GHR or mosaicism from GHR.

Infants born with Trisomy 18 are usually small at birth. There is a recognizable pattern of physical
features including:

Craniofacial characteristics - prominence to the back part of the head, small palpebral fissures from
Medicine.Net, external ear variations, cleft lip or palate, and small mouth and jaw (micrognathia).
Extremities - clenched fist with index finger overlapping the third finger and 5th finger overlapping the
4th, small fingernails, radial defects with underdeveloped or altered thumbs, clubfeet, and rocker-
bottom feet.
Congenital heart defects - 90%
Other: short sternum, open neural tube defects, kidney defects
All infants have severe mental retardation. Most die shortly after birth, with only 5-10% living greater
than 1 year.

Trisomy 13 – Patau Syndrome

Trisomy 13 is cause by an extra chromosome 13. It is the third most common trisomy (after Trisomy 21
and 18) occurring approximately once in every 10,000 births. Trisomy 13 is caused by non-disjunction
(80%) and translocations (20%).

Infants born with Trisomy 13 have a recognizable pattern of malformations, including a number of
midline defects:

Craniofacial characteristics: Microcephaly; holoprosencephalyfrom Medical Genetics by Lynne Be. Jordy,

PhD (60%), scalp defects (cutis aplasia), microphthalmia or anophthalmia by Medicine.Net, cleft lip
and/or cleft palate (60%)
Congenital heart defect (80%): VSD, ASD, PDA, or dextrocardia
Abdomen: Omphalocele (10%), kidney defects (30%) by MedlinePlus
Extremities: Polydactyly (extra fingers or toes) by MedlinePlus
All infants have severe to profound mental retardation. Survival to 6 months is less than 5%.
 References

Boston Children’s Hospital. Trisomies and monosomies in Children. 20 Oct.

http://www.childrenshospital.org/conditions-and-treatments/conditions/trisomies-and-monosomies

Medical Genetics and Dysmorphology. 20 Oct.

https://www.utmb.edu/pedi_ed/CORE/MedicalGenetics/page_11.htm

U.S. National Library of Medicine. Genetics Home Reference. 20 Oct.

https://ghr.nlm.nih.gov/condition/trisomy-13

University of Rochester Medical Center. Health Encyclopedia. Numerical Abnormalities: Overview of

Trisomies and Monosomies.
https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=90&ContentID=P02138

Trisomie 21
http://www.msss.gouv.qc.ca/sujets/santepub/depistage-prenatal/index.php?trisomie-21
http://www.magicmaman.com/,trisomie-21-trisomie-16-trisomie-18-quelles-
differences,3257,2053592.asp

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