genetic disorders:

DOWN SYNDROME
&
CHILDHOOD
TUMORS
NCM 109
Down Syndrome
 Trisomy 21
 Caused by abnormal cell division
results in extra chromosome 21
 Intellectual disability, health and
developmental challenges, and a
distinct appearance
 47XX21+ or 47XY21+
Normal human
Karyotype Trisomy 21 karyotype
 Wide gap between
1st & 2nd toes
 Cognitively challenged: IQ of
50 to 70 (less than 20 if
profoundly affected)
 Aging occurs faster - 50 to
60 years life span
 Occurs about 1 in 800
pregnancies
 Incidence is as high as 1 in
100 live births for women
older than 35 years old Incurved little
finger
Simian Crease
 Epicanthal fold
Upward slanted eyes

Flat nose
Low-set
(folded) ears

Protruding tongue
Extra pad of
fat
Round & Flat face
Short neck
 Accompanying
Disorders
 Congenital heart disease
 Stenosis or atresia of the
duodenum
 Strabismus
 Cataract
 Lymphocytic Leukemia
 Altered immune function (prone
to upper respiratory infection)
 Fetal diagnosis is possible by sonogram.
 It is important for children with Down
Syndrome to be enrolled in early
educational and play programs so they
can develop to their full capacity.
 Good handwashing technique is
important.
 They should be fed slowly.
 Childhood
Tumors
 Cancer occurs in people of all ages and can affect any part of the body. It
begins with genetic changes in a single cell that then grows out of control. In
many cancers, this results in a mass (or tumour). If left untreated, cancer
generally expands, invades other parts of the body and causes death. (WHO,
2018)

 Unlike cancer in adults, the vast majority of childhood cancers do not have a
known cause. Many studies have sought to identify the causes of childhood
cancer, but very few cancers in children are caused by environmental or
lifestyle factors. (WHO, 2018)
 Cancers in Children associated with chromosomal
abberrations
Retinoblastoma (chromosome 13) - eye
cancer that begins in the retina

Wilms' Tumor/Nephroblastoma
(chromosome 11) - childhood cancer that
starts in the kidneys

Neuroblastoma (chromosome 1 or 11) -

cancer that develops from immature nerve
cells (neuroblast) found in several areas of
the body
 Significant improvements can be made in
the lives of children with cancer by
detecting cancer early and avoiding delays
in care. A correct diagnosis is essential to
treat children with cancer because each
cancer requires a specific treatment
regimen that may include surgery,
radiotherapy, and chemotherapy. (WHO,
2018)
 Siblings of children with cancers need to be
tested to reveal if they carry the gene
abberation and followed closely by a health
care provider so early diagnosis and
therapy can begin.