ABERRATIONS

change in nuclear material involving gross modifications or abnormalities in chromosome number or structure

TYPES OF ABERRATIONS
SEX CHROMOSOMAL

aberrations- change in the

normal number of sex chromosomes (usually a pair); caused by nondisjunction

SUPERFEMALE/ METAFEMALE
Triple X syndrome 47 chromosomes (44, XXX) short, stocky, flat-chested no apparent physical

abnormalities generally sterile and mentally retarded

KLINEFELTER SYNDROME
47 chromosomes (44, XXY) externally a male but with

underdeveloped testes and enlarged breasts (GYNECOMASTIA) tall, slim, few body hairs learning disabilities

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Patient with typical untreated (surgery/hormones) Klinefelter's 46,XY/47,XXY mosaic, diagnosed at age 19. Scar from biopsy may be visible on left nipple (results were benign).

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ULLRICH-TURNER SYNDROME
Gonadal dysgenesis 45 chromosomes (44-XO) externally a female but with

underdeveloped fibrotic ovaries short, stocky, flat-chested w/ normal verbal IQ but lower performance IQ

TURNERS SYNDROME
Girl with Turner syndrome before and immediately after her operation for neck-webbing which is a characteristic clinical feature of patients with the syndrome

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Lethal syndrome
45 chromosomes (44,YO)
causes death due to the

absence of the X chromosome

JACOB SYNDROME
47 chromosomes (44, XYY) phenotypically, a male usually taller than average suffer from persistent acne learning problems in school delayed emotional maturity associated w/ anti-social behavior

like acts of violence

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parthenogenesis
development of an egg into a

zygote w/o fertilization results to an individual w/ 23 chromosomes (haploid) w/ only 1 sex chromosome a female (Turners syndrome)

intersexes
have both ovaries and testes due to the presence of primordia

for both sets of reproductive organs in the first few weeks of embryonic life Some show cells w/ both XX and XY condition (GENETIC MOSAICISM)

TYPES OF ABERRATIONS
AUTOSOMAL CHROMOSOME

aberrations- change in the number or structure of the autosomal chromosomes

Change in number
Aneuploidy- changes in

number involving a whole chromosome Euploidy- changes in the whole set which is an exact multiple of the haploid number

aneuploidy
MONOSOMY- loss of a

chromosome

TRISOMY- addition of a

chromosome

DOWNS SYNDROME
Trisomy 21

Occurs in 1 for every 600 live

births; usually born to women over the age of 40 Mouth usually open, slanting eyes, simian line in palms, mental retardation, short life

Edwards SYNDROME
Trisomy 17 or 18

Occurs in 1 for every 6000

live births;die at 3 to 4 months of age

Elongated skull,

short breast bone, short neck, malformed ears, mental deficiency

pataus SYNDROME
Trisomy 13, 14 or 15

Occurs in 2 for every 10,000

live births; lives from a few days to a few months Microcephaly; malformed ears; bilateral harelip; deformation of limbs; heart defects

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