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Chromosomal disorders may be due to _______. (5)
- -Changes in chromosome number or structure
- -Some Autosomal disorders
- -Sex chromosome abnormalities
- -Increased number of trinucleotide repeats
- -Genomic imprinting
Chromosome number which is not a multiple of 23
Chromosome number is greater than 2 haploid
Absence of a part or a whole chromosome
Reunion of a broken chromosome in an inverted position
(T/F) Inversion does not occur in the same chromosome.
Exchange of chromosomal segments between non homologous chromosomes
(T/F) Translocation happens between different chromosomes.
Common name for Trisomy 21
They have the best prognosis and usually does not look like a DS patient.
Give the two common lethal trisomies.
Trisomy 18 is also known as ______.
Trisomy 13 is also known as _____.
What are the characteristics of a patient with Di George Sydrome?
- CATCH 22 (Cardiac, Abnormal
- fascies, T cell deficit/thymic hypoplasia, Cleft
- palate, Hypocalcemia/hypoparathyroidism)
A disease that is caused by having only one X chromosome. (XO)
Klinefelter syndrome is a disorder caused by extra ____ chromosomes.
X chromosomes => (XXY, XXXY)
An important cause of MR
second to DS. There is an increased CGG tandem repeats.
Fragile X syndrome
Also known as “marshmallow kids”. It is caused by the deletion of chromosome 15.
Prader Willi syndrome
(T/F) A child can get Prader Willi Syndrome through paternal transmission.
Also known as the “happy puppet syndrome”. It is also caused by the deletion of chromosome 15 but it's the mother that transmits it.
“kahit isa lang na gene ang present, nag-mamanifest na”
“kailangan ang dalawang genes to manifest”
Hunter syndrome, fabry disease, hemophilia A Lesch-nyhan syndrome
These diseases are caused by an ________ gene.
A very rare variant of X linked disorder where
both heterozygous females and homozygous males are affected.
It is caused by cytoplasmic (mitochondrial genes) which are exclusively inherited from the
Give the three disorders of sexual differentiation.
- ·Genetic sex: XX or XY genes
- ·Gonadal sex: presence of testes or ovaries
- ·Genital sex: external genitalia
Both ovarian and testicular tissue are present with ambiguous external genitalia and
both XY chromosome
Their gonads are testes but their external genitalia is not clearly male.
Their gonads are ovaries but external
genitalia are not clearly female.
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