EMBRYOLOGY CBL – MODULE 2

CASE 3
A 30 y/o female gave birth to baby girl noted to have webbed neck, swelling in the hand and foot
with skeletal abnormalities.
2. Explain the cause of such abnormality
Turner Syndrome is caused by a complete or partial monosomy of the X chromosome. This
occurs when a female has one normal X-chromosome in each of her cells, while the other sex
chromosome is either missing or structurally abnormal. In normal circumstances, a female
receives one X-chromosome from each parent. The mistake leading to the missing chromosome
seem to happen spontaneously before or after conception. This missing genetic material affects
development both before and after birth.
There are two types of Turner syndrome. In the classic Turner syndrome, the female is missing
one chromosome in the pair. Instead of 46 chromosome, the female has 45 which means she has
only 1 X chromosome in her 23rd pair. This is perceived to be brought about when an egg or
sperm cell is forming. In Mosaic Turner syndrome, an error may occur in cell division resulting
in some cells having two X chromosome copies while others have only one. At times, there may
be some cells with both X chromosome copies, and others with one altered copy.
This chromosomal error causes physical deformities, developmental problems and health
complications among females.
References:
Kleigman, R., Stanton, B., Geme, J., Sohor, N., & Berhman, R. (2016). Nelson Textbook of
Pediatrics. ( 20th ed, p. 621). Elsevier Inc.
Santrock, J. (2011). Life-span Development. (13th ed, p. 62-63). McGraw-Hill Companies.
National Genome Research Institute. (2011). Learning about Turner syndrome. Retrieved
September 4, 2020, from http://www.genome.gov/19519119