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 »

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 »

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 »

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 »

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 »

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 »

Why Is Preconception Care Important ?

Preconception care is a health plan that focuses on taking steps to improve the health of the man and woman before they conceive. ... 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 »

Introduction to Breast Cancer: Causes and Risk Factors

Breast cancer is the most common type of cancer in women and the second leading cause of cancer related deaths, next to lung cancer. ... 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 »

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 »

Child Height Calculator: How Tall Will Your Baby Be?

Will your baby be tall? Doting parents often wonder just how tall their little ones will grow to be. According to Dr. Alex Roche, adult height can be predicted using a simple mathematical equation. ... 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 »

Müllerian agenesis - Mayer–Rokitansky–Küster–Hauser Syndrome

What is Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome or Müllerian agenesis ... read more »

Inversion of the Chromosome

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

PGD Preimplantation Genetic Diagnosis

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 »

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 »

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 »

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 »

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 »

Recurrent Pregnancy Loss

What are possible causes of recurrent pregnancy loss? ... 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 »

No Sperm - Azoospermia

My partner has Azoospermia (absence of sperm in ejaculate). What should our next step be when trying to get pregnant? ... 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 »

Amniocentesis - Indications

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

Placenta Testing Reveals Possible Preeclampsia Marker

Researchers testing placentas after infant births may have found a gene marker. The gene is associated with the immune system and may be the cause of some cases of preeclampsia. ... read more »

Chinese May Have New Answer to Genetic Testing

Testing for potential genetic problems typically requires piercing the abdomen and amniotic sac to collect a tissue sample from the fetus. Researchers in China may have found an alternative to invasive prenatal testing. ... read more »

How Do I Know When to Get Pregnant?

Women often want to know when to get pregnant, but the answer is not as clear cut as some would like. ... read more »

Doctors Link Pregnancy and Weight Gain to Obese Children

We all have friends who think pregnancy is the time of life when they can eat what they want, when they want. Recent research notes that excessive weight gain during pregnancy may lead to an increased risk of obesity in children. ... read more »

Why Does a Miscarriage Occur?

The American College of Obstetricians and Gynecologists estimate up to 25% of pregnancies will end in pregnant miscarriage, but why does pregnant miscarriage occur? ... read more »

Cleft Lip / Cleft Palate

The term cleft lip or cleft palate refers to a birth defect that affects the upper lip and/or the roof of the mouth, known as the palate. In mild cases, the birth defect does not affect eating and can easily be repaired with simple cosmetic surgery. ... read more »

Fabry Disease

Fabry Disease is a genetic disorder passed along to children from the mother. The gene for the disorder is carried on the X chromosome. ... 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 »

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 »

Torsion Dystonia

Torsion Dystonia is a progressive genetic disorder that causes painful and debilitating muscle contractions. The most common form of the disease is early-onset with symptoms appearing in childhood. ... read more »

Congenital Heart Disease: Causes and Symptoms

Most obstetricians and heart specialists don't have an explanation exactly why  congenital heart disease occurs, though there are some common causes or risk factors that may contribute to the likelihood of CHD. ... read more »

Congenital Heart Disease: Diagnosis and Treatment

If your infant or child is experiencing increased fatigue, blue tinting of the skin or other conditions indicative of decreased or altered blood flow, the pediatrician may suggest testing for a congenital heart defect. ... read more »

What is DNA?

DNA, or deoxyribonucleic acid, is the hereditary material in humans andalmost all other organisms. Nearly every cell in a person's body has the same DNA. Most DNA is located in the cell nucleus (where it is callednuclear DNA). ... read more »

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