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Jordanna Joaquina, MS, CGC  
Female

Interests: Prenatal Genetics, Pediatric Genetics

AccessDNA
Los Angeles, CA
My Posts
Dec 01, 2009 in the Genetic Disorders Expert Forum - 1
We recommend that your daughter be evaluated by a medical geneticist, who is a physician that specializes in the diagnosis, treatment and prognosis of genetic disorders. A medical geneticist will perform a physical exam on your daughter as well as review the personal and family history in order to help determine if the hypoglycemia, growth, and posterior heli...
Dec 01, 2009 in the Genetic Disorders Expert Forum - 1
We recommend that you meet with a maternal fetal medicine specialist, who is physician that specializes in high risk pregnancies, to discuss the implication of both MTFHR and Factor V Leiden on pregnancy.
Dec 01, 2009 in the Genetic Disorders Expert Forum - 1
The causes of double uterus with double cervix are largely unknown. However, associated defects that affect the vagina, the kidneys, and less commonly, the skeleton, have been documented. As such, your girlfriend should speak to her doctor regarding any appropriate additional exams. In the simpliest sense, a hermaphrodite is an organism that has both male...
Dec 01, 2009 in the Genetic Disorders Expert Forum - 8
I apologize for the delay, but I was unable to find anything relevant to your son's specific abnormality. We recommend that you continue to follow up with your son's doctors, including his geneticist, as new information is being uncovered on a daily basis. You may also find some possible helpful resources at Chromosome Disorder Outreach or Syndromes...
Dec 01, 2009 in the Genetic Disorders Expert Forum - 1
Fraternal twins are more common in certain ethnic populations, such as African-Americans. Certain factors may increase the risk of having twins, such as fertility treatments and a maternal history of twins. A paternal history is not likely to contribute. Hope this information is helpful.
Dec 01, 2009 in the Genetic Disorders Expert Forum - 1
Consanguinity refers to when both members of a couple are related to each other by at least one common ancestor. We all have two copies of almost every gene - one from each parent. In autosomal recessive (AR) conditions, it is typically necessary to have two mutations, one in each gene copy, to be affected. People with only a mutation in a single gene are...
Dec 01, 2009 in the Genetic Disorders Expert Forum - 1
Consanguinity refers to when both members of a couple are related to each other by at least one common ancestor. We all have two copies of almost every gene - one from each parent. In autosomal recessive (AR) conditions, it is typically necessary to have two mutations, one in each gene copy, to be affected. People with only a mutation in a single gene are...
Dec 01, 2009 in the Genetic Disorders Expert Forum - 2
We recommend that your friend's child meet with a medical geneticist, who is a physician that specializes in the diagnosis, management and treatment of genetic disorders such as chromosome abnormalities. Sometimes, in cases of really rare disorders, there is limited information available about what to expect in the future, as only a few cases (if any at ...
Dec 01, 2009 in the Genetic Disorders Expert Forum - 2
Identical twins are not commonly familial. The overall incidence is about 4 per 1,000 pregnancies. Fraternal twins are more common in certain ethnic populations, such as African-Americans. Certain factors may increase the risk of having twins, such as fertility treatments and a maternal history of twins. A paternal history is not likely to contribute. Hop...
Dec 01, 2009 in the Genetic Disorders Expert Forum - 2
We recommend that you meet with a genetic counselor to discuss the risk of recurrence for spina bifida or other birth defects within your family. A genetic counselor is trained at assessing the risk based on personal history, family history, and any applicable genetic and non-genetic tests results. A genetic counselor can also review the implications of MTHFR...