Spinal Muscular Atrophy

Spinal Muscular Atrophy is a genetic disorder that affects motor neurons. The protein needed to keep these motor neurons alive is not coded correctly by the SMN1 gene. ... read more »

Neiman Pick Disease

Neiman Pick disease is a group of genetic diseases. There are five types of the disease, types A, B, C, D and E. Each type of Neiman Pick affects different organs, but all affect cholesterol storage, fat storage or both. ... read more »

Gaucher Disease

Gaucher disease is a genetic disorder passed along to children born to two parents with the recessive trait. The disease affects as many as 1 in 50,000 people with the highest risk in the Ashkenazi Jewish population. ... read more »

Fanconi Anemia

Fanconi Anemia is a genetic disorder that affects the bone marrow'sability to produce new or healthy red blood cells. Both parents mustcarry the affected gene to pass the disorder onto their children. ... read more »

Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) is a genetic disorder passed down from parents to children. The disease causes high fevers and bouts of inflammation. ... read more »

Familial Hyperinsulinism

Familial Hyperinsulinism affects insulin levels, which in turn affects blood glucose levels. Patients with the condition release too much insulin. Too much insulin causes blood glucose levels to drop, leading to hypoglycemia. ... read more »

Cystic Fibrosis

Cystic Fibrosis is a genetic disease that is chronic and life-threatening. A large portion of patients suffering from Cystic Fibrosis are children and young adults. The condition affects the lungs, gastrointestinal system, sweat glands and male reproductive system. ... read more »

Crohn’s Disease in Pregnancy

Crohn's Disease is an inflammatory autoimmune disorder.Typically, the body can tell the difference between native and foreignsubstances, but patients with Crohn's Disease lack this ability. ... read more »

Child Height Calculator: How Tall Will Your Baby Be?

Will your child be tall? Parents often wonder just how tall their baby will grow to be. According to Dr. Alex Roche, adult height can be predicted using a simple mathematical equation. ... read more »

Which Genes Will Your Baby Inherit?

When I was born, I was lucky enough to get my dad’s recessive blue eyes. This doesn’t happen too often though, which always gets people guessing about which traits their baby will ultimately inherit. ... read more »

Will Your Baby Have Dimples?

Let’s face it — dimples are adorable. When a little kid smiles with those expressive indentations on both cheeks, it’s hard not smile yourself from the innocence and sweetness you see. ... read more »

Is Having Twins Genetic?

When I found out I was having twins one of the first things that came to mind was my paternal aunt. She was the mother of fraternal twins. Then I realized my husband’s sister also gave birth to fraternal twins. ... read more »

Questions About Your Chances of Getting Pregnant

When women are trying to conceive, they often have questions regarding their chances of getting pregnant. There are several factors that come into play when it comes to getting pregnant. ... read more »

Müllerian agenesis - Mayer–Rokitansky–Küster–Hauser Syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. ... read more »

Factor XI Deficiency

Factor XI deficiency is a blood clotting disorder similar to hemophilia. There is a wide variance in symptoms with mild, moderate and severe cases. ... read more »

How Can I Find a Genetics Professional in My Area?

To find a genetics professional in your community, you may wish to ask your doctor for a referral. If you have health insurance, you can also contact your insurance company to find a medical geneticist or genetic counselor in your area who participates in your plan. ... read more »

Will Your Baby’s Eyes Stay Blue?

I come from a blue-eyed, brown-haired family. Every person in my immediate lineage —cousins, aunts, uncles, and grandparents — has blue eyes and curly brown hair. ... read more »

Preimplantation Genetic Diagnosis (PGD)

Pre-implantation Genetic Diagnosis (PGD) is a laboratory procedure, used in conjunction with IVF, which helps to reduce the risk of passing on inherited conditions. PGD can also be used for gender sex seletion prior to IVF.   ... read more »

Lifestyle Choices that Reduce Male Fertility

There are hundreds of reasons for male infertility. Some are medical in nature and others are a result of an accident. Male fertility can be associated with prescription medications, genetics, and age. ... read more »

How the Internet Became a Genealogy Game Changer

Thanks to the internet, researching family history has gotten much easier. You can now look into the past to understand where you came from, who your relatives were, and why your family moved or transferred to another location. ... read more »

What are the Types of Genetic Tests?

Genetic testing can provide information about a person's genes and chromosomes. ... read more »

Genetics, Genomics, and Pregnancy

Genetics is the science of inheritance, how traits such as hair color, eye color, and risk for disease are passed (“inherited”) from parents to their children. ... read more »

Amniocentesis - Indications

What are the reasons for doing a genetic amniocentesis? ... read more »

Heterochromia and Pregnancy

Heterochromia is a genetic or acquired eye condition that affects the iris. There are three forms of the condition: complete, sectoral and central. ... read more »

Down Syndrome Ultrasound Markers

Over the last decade, new technology has improved the methods of detection of fetal abnormalities, including Down syndrome. ... read more »

Klinefelter Syndome 47, XXY

What is Klinefelter syndrome? Klinefelter syndrome is a set of symptoms named after Dr. Harry Fitch Klinefelter, Jr. who was an American rheumatologist and endocrinologist. ... read more »

Bloom Syndrome

Bloom Syndrome is a rare genetic disorder first recognized and described by Dr. David Bloom. Another name for Bloom Syndrome is Bloom-Torre-Machacek Syndrome. ... read more »

Antiphospholipid Syndrome

Antiphospholipid syndrome, also referred to as Hughes syndrome, is a condition of the immune system that causes blood clotting and other complications. ... read more »

Ambras Syndrome

Ambras syndrome, also known as hypertrichosis, is associated withexcessive hair growth. There are two types of Ambras syndrome 'congenital and acquired. ... read more »

Canavan Disease

Canavan Disease is a genetic disorder commonly found in Ashkenazi Jews. The disease causes a premature breakdown of white matter in the brain. The disease is associated with chromosome 17. ... read more »

Machado Joseph Disease

Machado Joseph disease is a genetic disorder affecting muscle movement and development. Unlike many other genetic diseases, only one parent needs to carry the gene to pass the condition onto children. ... read more »

Tay Sachs Disease

Tay Sachs disease is caused by a defective gene on the 15th chromosome. Both parents must have the defective gene to pass the active disease to a child. If both parents carry the defective gene, children have a 25% chance of having an active form of Tay Sachs. ... read more »

Joubert Syndrome

Joubert Syndrome is a condition caused by a malformation of the brain. The condition can be passed from parents to children. To be inherited, parents must possess multiple recessive mutated genes. ... read more »

Risk Factors Revealed for Non-Hodgkin's Lymphoma

According to the Journal of the National Cancer Institute, there are several factors that may increase the risk of having children with a genetic predisposition to the cancer. ... read more »

Preemies More Likely To Be Left-Handed

Children born early are almost twice as likely to be left-handed rather than right-handed, according to author Sharon Moalem, MD, PhD. Moalem explores the health implications of handedness. ... read more »

Autism Symptoms Affected by Birth Timing

Researchers at Michigan State University has revealed a connection between pre-term and post-term delivery and certain autism symptoms. ... read more »

Congenital Heart Disease: Fast Facts

When it comes to better understanding a medical condition like congenital heart disease, often the basic fast facts are enough to give you the information you're looking for. Here are the basic fast facts of congenital heart disease. ... read more »

Glycogen Storage Disorder

The term Glycogen Storage Disorder is used to describe a collection of genetic diseases that affect how glucose is converted to glycogen or how glycogen is broken down into glucose. ... read more »

Will Angelina Jolie Pass the BRCA Mutation to Her Babies?

When Angelina Jolie revealed that she had undergone a double mastectomy to avoid breast cancer, my heart went out to her. She has a gene mutation in what’s known as BCRA, which increases her risk of getting breast and ovarian cancer. ... read more »

Genetic Factors in Infertility Identified

A genetic factor may predict an inability to conceive in men. At the heart of the research findings was the meiosis expressed gene 1, or MEIG1. ... read more »

Gray Pubic Hair and Trying To Conceive

We are trying to conceive, but I have a lot of gray pubic hair. Is that a problem? Does it affect my fertility? ... read more »

Inversion of the Chromosome

What does inversion of the chromosome mean? ... read more »

Merlob Grunebaum Reisner Syndrome

Familial opposable triphalangeal thumbs duplication: A rare birth malformation where the thumb has three bones instead of the normal two which gives it a fingerlike appearance. An extra toe is also present.  ... read more »

What is a Cell?

Cells are the basic building blocks of all living things. The human body is composed of trillions of cells. They provide structure for the body, take in nutrients from food, convert those nutrients into energy, and carry out specialized functions. ... read more »

Cystic Fibrosis 5T Allele

If a person carries the 5T allele, there may be a slight increase in pancreatitis and sinusitis. The 5T allele is a mutated cystic fibrosis gene. ... read more »

Congenital Dandy Walker Syndrome

Patients with Dandy Walker Syndrome are diagnosed with a malformation of the brain involving the cerebellum and the space around the cerebellum that is filled with fluid. ... read more »

Marrying a Cousin - Is There An Increased Risk In Pregnancy?

A task force has recently looked into the medical issues of cousin marriage and whether there are increased complications when cousins marry. ... read more »

Male Infertility Inherited?

Young men whose parents had difficulty conceiving are likely to have relatively poor sperm quality, a new study shows -- offering evidence that fertility problems are at least partly inherited in some cases. ... read more »

Recurrence Risk of Trisomy 9

Most miscarriages are associated with chromosome anomalies, and trisomy 9 (three No. 9 chromosomes) is among the most frequent anomaly found in miscarriages (about 7-8% of miscarriages), and only trisomy 16 (about 16% of miscarriages) is more frequent. ... read more »

Robertsonian Translocation - 13/14

Individuals with a balanced 21/22 Robertsonian translocation look normal and are phenotypically not different from other people who do not have this translocation. ... read more »

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