Creating a Family: Talk about Adoption, Foster & Kinship Care Genetics and Fertility
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Have you ever wondered if your struggle to conceive could be caused by your genes? Today we're going to answer that question and more about genetics and fertility by talking with two certified genetic counselors with CooperGenomics: Sharyn Lincoln and Sheila Johal.
In this episode, we cover:
Infertility is a disease affecting nearly 7% of all couples. It is a highly heterogeneous pathology with a complex etiology that includes both environmental and genetic factors. In this episode we will be focusing on the genetics.
What percentage of infertility can be attributed to our genes?
Genetics and Female Infertility
47,XXX (trisomy X; Triple X)
⁃ What is trisomy X?
⁃ How common is 47,XXX?
⁃ What are the symptoms of Triple X syndrome?
⁃ How common is infertility in women with Triple X?
⁃ Will the children conceived also have this chromosomal abnormality?
Turner syndrome (monosomy X)
⁃ What is Turner Syndrome?
⁃ How common is it?
⁃ What are the symptoms?
⁃ How common is mosaicism with this chromosomal defect?
⁃ How common is infertility in women with monosomy X?
⁃ Will the children conceived also have this chromosomal abnormality?
Single Gene Disorders
⁃ Fragile X (Primary Ovarian Failure)
⁃ Premutation
⁃ Galactosemia
⁃ Others
Polygenic, complex female infertility (environment & genetics)
⁃ Endometriosis
⁃ Is there a genetic link?
⁃ Fibroids
⁃ Is there a genetic link?
⁃ Hereditary leiomyomatosis and renal cell cancer (HLRCC)
⁃ Polycystic ovarian syndrome (PCOS)
⁃ Congenital adrenal hyperplasia (CAH)
⁃ Primary Ovarian Insufficiency (POI)
⁃ Is there a genetic link?
⁃ XXX syndrome
⁃ Fragile X syndrome
Genetics and Male Infertility
Klinefelter syndrome
⁃ What is Klinefelter syndrome, 47,XXY?
⁃ How common is Klinefelter syndrome?
⁃ What are the symptoms of Klinefelter syndrome other than infertility?
⁃ Is it possible for a man with Klinefelter syndrome to reproduce?
⁃ Will the children also have chromosomal abnormalities?
47,XYY syndrome
⁃ How common is XYY syndrome?
⁃ What are the symptoms of XYY syndrome other than infertility?
⁃ Will the children also have chromosomal abnormalities?
Structural chromosomal abnormalities (SCAs) include deletions, duplications,
translocations (balanced, imbalanced, and Robertsonian), and inversions.
⁃ Y chromosome micro deletions
Single Gene Disorders (Cystic Fibrosis)
Why has it been so hard to pinpoint the exact genes associated with male and female
fertility?
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