2.1.
Biological bases to explain Human Development
Dr. Jyoti SSharma
Process of Development
• Out of millions of sperms, only about 50 of them will be able to come close
to the egg cell
• The sperms will release enzyme that dissolves the jelly like coating of the
egg cell
• Meanwhile, the egg is no passive participant, it actually embraces the
lucky sperm cell
• To avoid penetration by more than one sperm, the egg produces brief
electrical shocks on its surface (lasting about 30 seconds) followed by a
hard protein coat
• The sperm cell is held down on the egg’s membrane, while the coat rises
above it, pushing all other sperms away
• The egg pulls the sperm inside itself and moves its nucleus to meet that of
the sperm
• Fertilization, the union of the egg and
sperm produces a single cell that is called
zygote, which contains 23 chromosomes
(strands of genetic material) contributed
by the sperm and 23 chromosomes
contributed by the egg
• Chromosomes are made up of
DEOXYRIBONUCLEIC ACID (DNA), each
segment of DNA is a gene, the basic unit
of heredity
• 46 chromosomes align in pairs (23 pairs)
• First 22 pairs are called autosomes
• 23rd pair are called sex chromosomes
(They determine the gender of the
developing baby)
• There are two types of genes, the dominant genes, which carry dominant
traits (the stronger one), and recessive genes which carries recessive traits
(the weaker one)
• Incomplete dominance occurs when the dominant trait was not able to
cover up the recessive trait (hair, eye color, some characteristics that may
not be readily apparent e.g. shape of blood cells)
• CODOMINANCE (Phenomenon in which 2 alleles are expressed to an equal
degree within an organism)
• This happens when 2 different dominant traits coexist in the offspring, e.g.
AB blood type
• Some traits are called sex-linked traits. These traits only appear in a
particular gender (Males)
• E.g. Baldness, hemophilia,
color blindness
• NOTE: The genetics
cluster of traits that you
have and are observable
from outside if your
phenotype
• Your total genetic make
up observable or not is
your genotype
Kinds of Twins
• Identical or Monozygotic Twins: Twins that developed from a single zygote
that split. They look alike because they share almost the same genetic
makeup
• Fraternal or Dizygotic Twins: Twins the developed from the simultaneous
union of 2 pairs of egg and a sperm cell. They do not share the same
genetic makeup and maybe of different gender, one male , one female
• KLINEFELTER’S SYNDROME (XXY) (found only in males detected at puberty)
1/500 males
• Occurs when a genetic male has a extra x chromosome
• Abnormal, no sperm production, reduced testosterone production
• Tall, poor muscular development, enlarged breats
Sex chromosome Disorder
• Turner’s syndrome (XO) (
• There is a missing chromosome
• Short, no mensuration
• Sexually underdeveloped females
• Superfemale syndrome (XXX) (Trisomy..Triple X syndrome)
--- Intellectually deficit females
---Appears quite normal
--May have slight neuro motor developmental delay
Slight delay in speech and language, lack of coordination, increased chance
of infertility
Supermale syndrome (XYY) also called as superman syndrome
-- Taller than normal males
Below average intelligence
Neurodevelopmental impairments
Symptoms of Autism spectrum disorder (ASD)
• Down Syndrome (Trisomy 21)
• - extra pair sex chromosome
appeared in the 21st pair of
autosomes
• -MR
• -Sloping forehead,
protruding tongue, short
limbs, flattened nose,
oriental in appearance
Autosomal Abnormality
(Aneuploidy)
• Abnormality in the number of
chromosomes
• EDWARD SYNDROME (Trisomy
18)
• --An extra chromosome in 18th
pair of autosomes
• -Abnormally small mouth,
malformed ears, elongated skull,
clenched hand, short breast
bone
• Congenital heart disease
• Patau’s syndrome (Trisomy 13)
• --An extra chromosome in 13th pair of
autosome
• -Defects of eye, nose, lips, ears and
forebrain
• Having one eye at extreme cases
• Has more that the normal number of
fingers or toes
Autosomal Abnormalities
• Other congenital defects (Congenital blindness, heart disease) may be
a result of maternal diseases (Like malaria, chicken pox, german
measles, alcohol, smoking , emotional problems, endocrine
irregularities)
• Collectively, these environmental forces that hinder the healthy
development of an unborn child are called teratogens (Agent that
causes malfunction to embryo)
Teratogens
• Rubella (German measles)- Blindness, deafness, heart abnormalities
• Syphilis – MR, Physical deformities, Maternal Miscarriage
• Addictive drugs – Low birth weight, addiction to the drug, possible
death from withdrawal
• Smoking- Premature birth, low birth weight and length
• Alcohol- MR, small head, limb deformities
• Radiation from X-rays- physical deformities, MR
• Inadequate Diet- reduced brain growths, Low weight and length
35+- Increased incidence of down syndrome
PRENATAL DEVELOPMENT
• STAGE 1
• GERMINAL STAGE (Fertilization – 2 weeks)
• Rapid cell division
• By the end of the stage, the fertilized egg becomes a blastocyst (about the
size of a pinhead) and plants itself in the wall of the uterus
• STAGE 2
• EMBRYONIC STAGE (end of 2 weeks – 2 months)
• Major body systems and organs develop, organism becomes vulnerable to
environmental influences
• Most likely occurrences of chromosomal abnormalities
• FEATL STAGE (end of 2 months-Birth)
• 3rd month- 3”; 25grams; assumes human form, large head, starts bone
formation, teeth buds, nails; Genital becomes more recognizable
• 4th month- 13:5 cm, 120 gms, about the size of a small orange, broad face, eyes
widely separated, capable of swallowing and kicking, nail /eyebrows start to
grow
• 5th Month- 7.3” 440 gms, vital organs developed, more frequent movement
• 6th month- 9”, 1.75 pounds, large head, lean body, with skin wrinkles, skin pink in
color, fine downy hair, cover the body, eye brows, eye lashes visible
• 7th Month- 10.6”, 1.36KG, can open eyes, can stretch and kick, skin is red and
wrinkled
• 8th month- 12.2”, 5 pounds, fat begins to store in the body, lungs fully developed,
head and body are proportionate, assume position for delivery
• 9th Month- 14.2”, 7 Pound, redness and wrinkles fade, downy hair dissapears
Capabilities of a newborn
• Facilitate social responsiveness
• Senses
• Quipped with reflexes ideally suited for our survival
• Within days of birth, our brain’s neural networks were stamped with the
smell of our mother’s body
• At three weeks, if given a pacifier that sometimes turns on recordings of its
mother’s voice and sometimes of a stranger’s. An infant will suck more
vigorously when it hears its now-familiar mother’s voice
• Reflexes are unlearned, involuntary responses that occur automatically in
the presence of stimuli
• They are critical for survival
• Rooting reflex- turning one’s heads towards things the touch their cheeks
• REFLexes
• Sucking reflex- infants such things that touch their lips
• Gag reflex- reflex to clear the throat
• Startle reflex- a series of movements in which an infant flings out the arms,
fans the fingers, and arches the back in response to sudden noise
• Babiniski reflex- a baby’s toes fan out when the outer edge of the sole of the
foot is stroked
• Grasping reflex
• Infants lose these primitive reflexes after the first few months of life,
replaced with more complex and organized behaviours
