a whole segment of a chromosome is lost - Usually lethal - a child born with this syndrome is mentally retarded and has a small head and a cry like of a cat - death usually occurs in infancy (cri du chat)

A lost or broken segment of one chromosome becomes incorporated into its homologue - sometimes creates a "look-alike" chromosome, where one specifc DNA sequence is repeated.

A segment of a chromosome breaks off and is turned 180 and reincorporated into the same chromosome -less likely to produce harmful effects

a portion of a chromosome is transferred to a non-homologous chromosome - translocation is usually reciprocal - unequal pieces are exchanged between the two non-homologous chromomsome (Chronic myelogenous leukemia)

Human Abnormalities of chromosome number

due to nondisjunction occuring during Meiosis I or Meiosis II - results in aneuploidy = Abnormal chromosome number

Results in spontaneous abortion - Lethal

Patau's syndrome (1 in 5000 live births) results in eye, brain and cardiovascular defects - cleft palate and hairlip possible death occurs a few days after birth

Edward's Syndrome (1 in 10,000 births) Defects in all body systems deaths occurs a few months after birth

Down syndrome (1 in 700 births) ranges from mild to severe mental retardation IQ = 25 - 70 -10-15% of institutionalized mental - characterized by round face, slanting eyes, short stature, protruding tongue, thick neck. heart problems.

Disorders that result due to a missing chromosome (2n-1)"Most are Lethal) YO & XO

die as fetus - spontaneous abortion results must have X chromosome to be viable

Turner's Syndrome (1 in 5000 births) looks female, but missing a 2nd X chromosome - Short stature with webbed neck - No menstrual cycle - sterile - heart and kidney problems - poor breast development

Disorders that are due to an extra chromosome (some are lethal, while some produce offspring with health issues)(2n+1)XXY & XXX & XYY

Klinefelter's Syndrome (1 in 2000 births) Looks male, Excessively tall - taller than 6'3

Triplo X or Metafemale Syndrome (1 in 1000 live births) Female with no physical symptoms many are sterile

1 in 2000 live births; Male with no physical symptoms or problems.

Are produced by red blood cells - Recognize similar blood types

Are protein molecules produced by white - Reject foreign blood types

Polygenic inheritance

Multiple gene pair influence the expression of one trait

a photographic display of the chromosomes from a cell. - blood cell, skin cell, fetal cells can be obtained for amniocentesis or through chroionic villus sampling.

The production of abnormal white blood cells or the absence of their production

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MutationsBiology

ChromosomeStructure Problems. CH14

Question	Answer
Deletion	a whole segment of a chromosome is lost - Usually lethal - a child born with this syndrome is mentally retarded and has a small head and a cry like of a cat - death usually occurs in infancy (cri du chat)
Duplication	A lost or broken segment of one chromosome becomes incorporated into its homologue - sometimes creates a "look-alike" chromosome, where one specifc DNA sequence is repeated.
Inversion	A segment of a chromosome breaks off and is turned 180 and reincorporated into the same chromosome -less likely to produce harmful effects
Translocation	a portion of a chromosome is transferred to a non-homologous chromosome - translocation is usually reciprocal - unequal pieces are exchanged between the two non-homologous chromomsome (Chronic myelogenous leukemia)
Human Abnormalities of chromosome number	due to nondisjunction occuring during Meiosis I or Meiosis II - results in aneuploidy = Abnormal chromosome number
#1---> #12	Results in spontaneous abortion - Lethal
Trisomy #13	Patau's syndrome (1 in 5000 live births) results in eye, brain and cardiovascular defects - cleft palate and hairlip possible death occurs a few days after birth
Trisomy #18	Edward's Syndrome (1 in 10,000 births) Defects in all body systems deaths occurs a few months after birth
Trisomy #21	Down syndrome (1 in 700 births) ranges from mild to severe mental retardation IQ = 25 - 70 -10-15% of institutionalized mental - characterized by round face, slanting eyes, short stature, protruding tongue, thick neck. heart problems.
Monosomy Disorders	Disorders that result due to a missing chromosome (2n-1)"Most are Lethal) YO & XO
YO	die as fetus - spontaneous abortion results must have X chromosome to be viable
XO	Turner's Syndrome (1 in 5000 births) looks female, but missing a 2nd X chromosome - Short stature with webbed neck - No menstrual cycle - sterile - heart and kidney problems - poor breast development
Trisomy	Disorders that are due to an extra chromosome (some are lethal, while some produce offspring with health issues)(2n+1)XXY & XXX & XYY
XXY	Klinefelter's Syndrome (1 in 2000 births) Looks male, Excessively tall - taller than 6'3
XXX	Triplo X or Metafemale Syndrome (1 in 1000 live births) Female with no physical symptoms many are sterile
XYY	1 in 2000 live births; Male with no physical symptoms or problems.
Antigens	Are produced by red blood cells - Recognize similar blood types
Antibodies	Are protein molecules produced by white - Reject foreign blood types
Polygenic inheritance	Multiple gene pair influence the expression of one trait
Karyotype	a photographic display of the chromosomes from a cell. - blood cell, skin cell, fetal cells can be obtained for amniocentesis or through chroionic villus sampling.
Aneuploidy	An abnormal chromosome number
Leukemia	The production of abnormal white blood cells or the absence of their production

Created by: phurbos

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