Chromosomal

Anomalies
 What are chromosomal
anomalies?
• reflects an abnormality of
chromosome number or structure
• occur when there is an error in cell
division following meiosis or mitosis
Down's syndrome

• Down syndrome
or trisomy 21 is a
genetic disorder
caused by the
presence of all or
part of an extra
21st chromosome
• Incidence ~ 1 per
800 to 1,000 births
 Physical Findings
• Almond shape eyes caused by an
epicanthic fold of the eyelid
• Shorter limbs
• Protuding tongue
Newborns with Down syndrome have
an increased risk of:
• Congenital heart defects
• Gastroesophageal reflux disease
• Recurrent ear infection
• Thyroid dysfunction or disorder
Impairment of cognitive ability
 Patau's syndrome
• trisomy 13, additional chromosome 13
due to a non-disjunction of chromosomes
during meiosis
• disrupts the normal course of
development, causing the characteristic
features of Patau syndrome
• the risk increases with increased maternal
age at pregnancy
• 1 in 5,000 live births
 Physical Findings
• mental & motor retardation
• polydactyly (extra digits)
• microcephaly
• low-set ears
• holoprosencephaly (failure of the forebrain
to divide properly)
• heart defects
• meningomyelocele (a spinal defect)
• abnormal genitalia
• overlapping of fingers over thumb
 Edward's syndrome
• Extra chromosome at chromosome
18 - usually occurs before conception
Rate of occurrence is ~
– 1:3000 conceptions
– 1:6000 live births, as 50% of those
diagnosed prenatally with the condition
will not survive the prenatal period
• Physical findings are similar to that
of Patau’s Syndrome
 Cri du chat
• is a rare genetic disorder due to a missing portion
of chromosome 5
• The infant sounds just like a meowing kitten, due
to problems with the larynx and nervous system

Findings
• feeding problems because of difficulty swallowing
and sucking
• low birth weight, hypotonia, microcephaly,
growth retardation, a round face with full cheeks,
down-slanting palpebral fissures, and cardiac
defects (patent ductus arteriosus [PDA], tetralogy
of Fallot)
 Turner's syndrome
• monosomy X
• occurs in 1 out of every 2500 female births
• only one X chromosome is present and fully functional

Findings
• Short stature
• Lymphoedema (swelling) of the hands and feet
• Broad chest (shield chest) and widely-spaced nipples
• Low hairline
• Low-set ears
• Reproductive sterility
• Amenorrhea, the absence of a menstrual period
• Increased weight, obesity
 Turner
Syndrome Cri du Chat
 Klinefelter's syndrome
• Affected males have an extra X sex
chromosome (XXY)
• abnormal testicular development and
reduced fertility
• undiagnosed in most affected males