NetWellness Inherited Disorders and Birth Defects

Chances of Diabetes in Newborn Child

Anne Matthews RN, PhD — Fri, 02 Dec 2011 03:12:00 EST

Question: My wife is pregnant. She has diabetes, so I want to know what the chances are of my newborn child having diabetes?

Answer:

The chance that your newborn child will have diabetes depends on the type of diabetes your wife has and how old she is when the baby is born. According to the American Diabetes Association, there is a 1 in 25 (or 4%) chance of having a baby with diabetes if the mom is less than 25 years old and h . . .

Ask an Expert: Anne Matthews RN, PhD, Inherited Disorders and Birth Defects

Alkaline Exposure

Anne Matthews RN, PhD — Sat, 05 Nov 2011 16:11:00 EST

Question: My daughter was born in 1991. She is missing part of chromosome #10. Could this be due to alkaline exposure to her great grandfather in a gold mine? P.S. Other relatives affected.

Answer:

A deletion (a missing part) is caused by a chromosome break and then a loss of genetic material. It can occur anywhere along the chromosome and can occur with any chromosome. In the case of your daughter, you describe a deletion of chromosome 10. What types of problems are seen - the phenotype - . . .

Ask an Expert: Anne Matthews RN, PhD, Inherited Disorders and Birth Defects

Lactacidemia

Anne Matthews RN, PhD — Mon, 03 Oct 2011 08:10:00 EST

Question: Can you tell me about the disease "lactacidemia" in children? My cousin`s sister has lost her three baby girls due to this disease as doctor said max age of the children having this is 2 years. After 3 baby girls she delivered a baby boy who is absolutely normal. Recently she has anot . . .

Answer:

"Lactacidemia" or lactic academia, means that abnormal levels of lactic acid are in the blood. Lactic acid is a normal by-product of when glucose is broken down in the body's tissues to be used for energy production. However, if the cells make too much lactic acid, then the blood becomes too acid . . .

Ask an Expert: Anne Matthews RN, PhD, Inherited Disorders and Birth Defects

Missing 7th Chromosone

Anne Matthews RN, PhD — Sun, 10 Jul 2011 10:07:00 EST

Question: Our grandson is missing the 7th chromosome. There is a huge question as to weather the little guy is in fact my son`s child. If our son is tested and has all his chromosomes, then does that mean he`s not the father?

Answer: The answer to your question is no - it would be very unusual for your grandson to have inherited a chromosome 7 that is missing a part of it. From your description, most likely your grandson is missing a piece of one of his chromosome # 7 (this is called a deletion). I do not know of any babies bein . . .

Ask an Expert: Anne Matthews RN, PhD, Inherited Disorders and Birth Defects

Mosaic Chromosome

Anne Matthews RN, PhD — Thu, 30 Jun 2011 07:06:00 EST

Question: We are a couple with an AS (for maternal age) result 45,X[13]/46,XY[27]. The US at 21 weeks gestation shows normal male genitalia (no hypospadias, no micropenis). We searched for the current literature. We would appreciate it if you coul comment on this particular issue. Thank you so much. . . .

Answer:

The chromosomal defect you ask about is known as 45,X/46, XY mosaicism. Mosaicism occurs when some tissues of the body have one set number of chromosomes such as 46 and other tissues in the body have another set number of chromosomes - such . . .

Ask an Expert: Anne Matthews RN, PhD, Inherited Disorders and Birth Defects

Simian Line

Anne Matthews RN, PhD — Thu, 30 Jun 2011 04:06:00 EST

Question: I would like to know if the simian line can be inherited. I have the line on my right hand, my brother on both palms,my son on both palms and my son`s 8 year old on both palms? Regards

Answer:

A single palmar crease (also called a simian crease) is a single crease across the palm of the hand which can be a normal variation of palmar creases. Most people have 2 creases.

About 4% of the general population has a single palmar crease on one hand and about 1% will have it on both palms . . .

Ask an Expert: Anne Matthews RN, PhD, Inherited Disorders and Birth Defects

Sterility issue

Anne Matthews RN, PhD — Sun, 29 May 2011 00:05:00 EST

Question: Is there a sterility issue for a man if his mother and father were first cousins? In this particular case the grandmothers of the man had different fathers but the same mother so does that factor in?

Answer:

Not necessarily. There are many reasons for a man to be sterile. For example, having some diseases such as diabetes may cause sterility in men. If there are abnormalities in the Y-chromosome (this would be inherited from the man's father) or having the wrong number of sex chromosomes can cause st . . .

Ask an Expert: Anne Matthews RN, PhD, Inherited Disorders and Birth Defects

Syndactyly

Anne Matthews RN, PhD — Tue, 05 Apr 2011 09:04:00 EST

Question: I have syndactyly of one foot which I believe may be `sporadic` - I don`t think anyone else in my family has it. Does this mean that I don`t have a gene that codes for syndactyly and therefor cannot pass it on to my children? Or can the gene still be passed on as an autosomal dominant inherited trai . . .

Answer:

As you know, syndactyly is webbing that occurs between fingers and toes. The most common type involves only the skin (no bones involved) and is between the 2nd and 3rd toes or between the middle finger and ring finger. It is very common - about 1 in 2,000 people. As you mention, it can be sporadi . . .

Ask an Expert: Anne Matthews RN, PhD, Inherited Disorders and Birth Defects

Fetus Head Measuring Small Fluid Around Heart

Anne Matthews RN, PhD — Wed, 16 Mar 2011 11:03:00 EST

Question: My wife just had an ultra sound at 22 weeks and they noticed that the babys head is measuring 2 weeks behind, there is fluid around the heart, she has a thick placenta, and the amniotic fluid is low. They did an amnio and we will be getting the results in a couple weeks. All ultra sounds before look . . .

Answer:

There could be many different reasons for there to be fluid around the heart, low amniotic fluid and the baby's head measuring small. It is impossible to say without more information. Sometimes babies that have a chromosome abnormality might have these kinds of findings, which is probably one of . . .

Ask an Expert: Anne Matthews RN, PhD, Inherited Disorders and Birth Defects

Need for Genetic Testing

Anne Matthews RN, PhD — Sat, 12 Mar 2011 16:03:00 EST

Question: I have a 5 month old son who was diagnosed with Williams Syndrome within the 1st week of his life (confirmed with microarray). I have 2 older sons, ages 7 and 3 1/2. The 7 year old has no developmental or medical issues and the 3 year old has no issues other than a speech articulation problem. He ha . . .

Answer:

As you probably know, people with Williams syndrome (WS) are missing a part of one of chromosome #7 - this is called a deletion (missing) on chromosome 7 ( specifically at 7q11.2).

People with Williams syndrome often have heart problems, characteristic facial appearance, a unique personality . . .

Ask an Expert: Anne Matthews RN, PhD, Inherited Disorders and Birth Defects