Studied by 4 people
Klinefelter Syndrome
________** (XXY)- has an additional X chromosome at chromosome 23.
Symbols
________ are used to represent different aspects of a pedigree such as the following.
Polydactyl baby
________ is born with one or more extra fingers, cleft palate.
Pedigree Analysis
________- Used to study the inheritance of genes in humans.
Sila ung
________ may both male and female reproductive organs.
Females
________ carry a U chromosome, whereas males carry a V chromosome.
Genes
________ on the X chromosome have different patterns of expression in females and males.
Translocations
________- involves the movement /change of location of a segment of a chromosome to a new place in the genome.
causative allele
Linked recessive trait is if the ________ is present in two copies.
Philadelphia Syndrome
________- deletion of an arm on chromosome 21.
Tay Sachs Disease
________- multiple kinds of mutations in chromosome 15.
Inversions
________- a segment of a chromosome is turned around 180 degrees.
Patau Syndrome
________- addition of 1 chromosome on chromosome 13, 14 or 15.
sexual category
The father determines the ________ of the offspring.
holandric inheritance
Also known as ________, is the determination of a phenotypic trait by an allele (or gene) on the Y chromosome.
Family Pedigree
________- Shows the history of a trait or illness in a family.
Prader Willi Syndrome
________- deletion of the arms in chromosome 15; respiratory problems, bird- like head, obese.
Dominant x
________- linked conditions and traits are rare and gene expression differs between the sexes.
Duplication
________- a condition where there is duplication of chromosomes.
twenty third pair of chromosomes
The ________ is different and determines sex.
Phenotypic sex
________ also has a couple of distinct systems: the internal ducts, and the external genitalia.
Y chromosome
Chromosomal sex- Presence or absence of the ________.
human traits
Allows geneticists to analyze ________ and /or diseases.
Sex-determination system
a biological system that determines the development of sexual characteristics in an organism
Ex
King Henry VIII
Gonadal sex (primary sex determination)
whether the gonads develop as testes or ovaries depends on the presence or absence of the SRY gene, usually found on the Y chromosome
phenotypic sex (secondary sex determination)
all of the internal and external structures develop along male or female lines depending on which hormones are secreted by the gonads
Phenotypic sex also has a couple of distinct systems
the internal ducts, and the external genitalia
Two important times
pre-natal development and puberty
Males have two different sex chromosomes
X and Y chromosome (XY)
Chromosomal Aberration
Any range resulting in the duplication, deletion, or rearrangement of the chromosome material
**Klinefelter Syndrome (**XXY)
has an additional X chromosome at chromosome 23
**Turner Syndrome (**X0)
individuals have only 1 X chromosome
broad, shield
like chest
Poly X (Superfemale, Metafemale)
individuals have more than 2 X chromosomes (XXX)
i. Monosomy
loss of 1 chromosome
Cri-du-chat syndrome (cry of the cat)
deletion of chromosome 5 lower arm
Trisomy
addition of 1 chromosome
Down Syndrome (Mongoloid)
addition of 1 chromosome on chromosome 21
Edward Syndrome
addition of 1 chromosome on chromosome 16, 17 or 18
Patau Syndrome
addition of 1 chromosome on chromosome 13, 14 or 15
i. Deletion/ Deficiency
a condition where a portion of a chromosome is lost; breaks in the chromosome
Philadelphia Syndrome
deletion of an arm on chromosome 21
Duplication
a condition where there is duplication of chromosomes
Inversions
a segment of a chromosome is turned around 180 degrees
Translocations
involves the movement/change of location of a segment of a chromosome to a new place in the genome
Tay-Sachs Disease
multiple kinds of mutations in chromosome 15
13 Q Deletion Syndrome
deletion of the lower arm of the chromosome 13
Aniridia-Wilms Tumor Syndrome
deletion of the upper arm of the chromosome 11; blindness, kidney tumor, mentally retarded and retarded growth
18 Q Deletion Syndrome
deletion of the arms on chromosome 18; heart diseases, large eyes and ears but normal lifespan
Prader-Willi Syndrome
deletion of the arms in chromosome 15; respiratory problems, bird-like head, obese
ZW Sex Chromosomes
found in birds, some reptiles, and some insects and other organisms
The ZW sex-determination system is reversed compared to the XY system
females have two different kinds of chromosomes (ZW), and males have two of the same kind of chromosomes (ZZ)
UV Sex Chromosomes
In some Bryophyte and some algae species
Mendelian Genetics
Pedigree Analysis
Pedigree Analysis
Used to study the inheritance of genes in humans
Family Pedigree
Shows the history of a trait or illness in a family
In females, X-linked traits are passed just like autosomal traits
that is 2 copies are required for a recessive allele, and one for a dominant allele
X
linked recessive trait is if the causative allele is present in two copies
Note 
Flashcard (112)