How JustAnswer Works:

  • Ask an Expert
    Experts are full of valuable knowledge and are ready to help with any question. Credentials confirmed by a Fortune 500 verification firm.
  • Get a Professional Answer
    Via email, text message, or notification as you wait on our site.
    Ask follow up questions if you need to.
  • 100% Satisfaction Guarantee
    Rate the answer you receive.

Ask Dr. Randy Peters Your Own Question

Dr. Randy Peters
Dr. Randy Peters, Doctor
Category: Medical
Satisfied Customers: 57
Experience:  General Practice for 16 years, member of the American Society of Bariatric Physicians
39669140
Type Your Medical Question Here...
Dr. Randy Peters is online now
A new question is answered every 9 seconds

What will happen to a newborn that is missing chromosome 4

Customer Question

What will happen to a newborn that is missing chromosome 4?
Submitted: 4 years ago.
Category: Medical
Expert:  IVY MD replied 4 years ago.
The newborn will have Wolf-Hirschhorn Syndrome:
This has "severe to profound mental retardation, microcephaly (small head), seizures, poor muscle tone, and cleft lip and/or cleft palate. Characteristic facial features, include strabismus, hypertelorism, down-turned "fishlike" mouth, short upper lip and philtrum, small chin, ear tags or pits, and cranial asymmetry. Occasional abnormalities include heart defects, hypospadias, scoliosis, ptosis, fused teeth, hearing loss, delayed bone age, low hairline with webbed neck, and renal anomalies." (from wikipedia: http://en.wikipedia.org/wiki/Wolf%E2%80%93Hirschhorn_syndrome)
Customer: replied 4 years ago.
Relist: Answer quality.
There is no chromosome 4 at all. Baby is 3 months old. ears are low set, large forehead, one kidney,severe club feet, very large hernia, eyes are wide set. does not suckle and was born premature. Mother is 38 yrs. old. Genetic testing was done.
Expert:  Dr. Randy Peters replied 4 years ago.
Then the genetic testing is probably wrong, or the karyotype was mistaken, or this is the first case in history of this occurrence.

Humans can make it to term with extra chromosomes (trisomies) or chromosome translocations. Only in the case of the sex chromosomes is it possible for a pregnancy to be carried to term with a completely missing chromosome.

If the baby in quesion has neither copy of chromosome 4 (we all have a pair of each), then by definition it's karyotype has only 22 pairs of chromosomes, 21 of which are autosomes, and 1 pair of sex chromosomes. I can find no evidence of such a disorder, and all of the references I can find state that there is no possibility of such an infant surviving to term.

If it's missing just one copy of chromosome 4, then the resultant child would have Wolf-Hirschorn Syndrome as stated by the first physician to answer your question.

If the karyotype (the usual genetic test done in such a case) states that the infant has no chromosome 4 at all, it is in question and a second should be obtained for confirmation. In that case, the clinical pathologist who runs the genetics lab would be the best person to interpret the results if confirmed.









Edited by Dr. Randy Peters on 6/17/2010 at 12:34 AM EST
Dr. Randy Peters, Doctor
Category: Medical
Satisfied Customers: 57
Experience: General Practice for 16 years, member of the American Society of Bariatric Physicians
Dr. Randy Peters and 5 other Medical Specialists are ready to help you
Customer: replied 4 years ago.
child was 2 months premature and Drs. indicated life span could be very short. Is this typical of this Disease? Is it hereditary?
Expert:  Dr. Randy Peters replied 4 years ago.
Is this typical of this disease?

It's rather difficult to say. Abnormalities of chromosome 4 are extremely rare so there are not that many cases on which to base a definitive answer. You can find information about the most common abnormalities at this website (published by the National Institutes of Health, so it's reputable): http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene?=whs

Regardless of what the literature says, however, the physician at the bedside will always have the best information about prognosis, because the manifestations of a genetic disorder vary, and ultimately, every patient is an individual. Just as an example, if you're born with insufficient lung capacity to survive, then the average survival time of all the other cases is not really relevant. You have to talk to the physicians there with the patient.

Is it hereditary?

There are two possible answers here;
- either the mutation happened "de novo" (neither parent carries an abnormality and there is almost no chance it will happen again), OR
- the parent(s) themselves carry an abnormality, and there is a very high risk that future children will be affected.

Defects with chromosome 4 arise "de novo" 75% of the time, so it is most likely that there is no future risk. But it may not be possible to tell without genetically testing the parents. The genetics expert who examined the child's karyotype should be able to tell you whether the parents will need testing to make this determination. If the parents are at risk, and do attempt to conceive again, then they should discuss the need for in uteru testing of future pregnacnies.

I hope this answers your question. But regardless of whatever the answers, it is a mother's worst nightmare to give birth to a child with any genetic defect. I will say a prayer for this patient and his/her family.













JustAnswer in the News:

 
 
 
Ask-a-doc Web sites: If you've got a quick question, you can try to get an answer from sites that say they have various specialists on hand to give quick answers... Justanswer.com.
JustAnswer.com...has seen a spike since October in legal questions from readers about layoffs, unemployment and severance.
Web sites like justanswer.com/legal
...leave nothing to chance.
Traffic on JustAnswer rose 14 percent...and had nearly 400,000 page views in 30 days...inquiries related to stress, high blood pressure, drinking and heart pain jumped 33 percent.
Tory Johnson, GMA Workplace Contributor, discusses work-from-home jobs, such as JustAnswer in which verified Experts answer people’s questions.
I will tell you that...the things you have to go through to be an Expert are quite rigorous.
 
 
 

What Customers are Saying:

 
 
 
  • I feel so much better today, and upon further investigation believe that there is a chance that the responses I got saved me from a serious, even life threatening situation. I am very grateful to the experts who answered me. Susan O. USA
< Last | Next >
  • I feel so much better today, and upon further investigation believe that there is a chance that the responses I got saved me from a serious, even life threatening situation. I am very grateful to the experts who answered me. Susan O. USA
  • I can go as far as to say it could have resulted in saving my sons life and our entire family now knows what bipolar is and how to assist and understand my most wonderful son, brother and friend to all who loves him dearly. Thank you very much Corrie Moll Pretoria, South Africa
  • I thank-you so much! It really helped to have this information and confirmation. We will watch her carefully and get her in for the examination and US right away if things do not improve. God bless you as well! Claudia Albuquerque, NM
  • Outstanding response time less than 6 minutes. Answered the question professionally and with a great deal of compassion. Kevin Beaverton, OR
  • Suggested diagnosis was what I hoped and will take this info to my doctor's appointment next week.
    I feel better already! Thank you.
    Elanor Tracy, CA
  • Thank you to the Physician who answered my question today. The answer was far more informative than what I got from the Physicians I saw in person for my problem. Julie Lockesburg, AR
  • You have been more help than you know. I seriously don't know what my sisters situation would be today if you had not gone above and beyond just answering my questions. John and Stefanie Tucson, AZ
 
 
 

Meet The Experts:

 
 
 
  • Dr. Thomas, MD

    Board Certified Physician

    Satisfied Customers:

    46349
    Internal Medicine--practice all of internal medicine, all ages, family, also Integrative, CAM, etc
< Last | Next >
  • http://ww2.justanswer.com/uploads/DR/DrThomasMd/2012-7-25_134438_Imagess1.64x64.jpg Dr. Thomas, MD's Avatar

    Dr. Thomas, MD

    Board Certified Physician

    Satisfied Customers:

    46349
    Internal Medicine--practice all of internal medicine, all ages, family, also Integrative, CAM, etc
  • http://ww2.justanswer.com/uploads/MY/mysticdoc/2012-6-8_15615_mysticdoc3.64x64.jpg Dr. D.J.'s Avatar

    Dr. D.J.

    Board Certified Physician

    Satisfied Customers:

    14679
    MD
  • http://ww2.justanswer.com/uploads/agketch/2008-7-14_184046_drketchresized.jpg Dr. Ketch's Avatar

    Dr. Ketch

    Board Certified Physician

    Satisfied Customers:

    76
    Medical Degree, Former Assistant Professor at School of Medicine at Yale University
  • http://ww2.justanswer.com/uploads/FA/FamilyPhysician/2013-8-31_191624_JA550x500Photo.64x64.jpg Family Physician's Avatar

    Family Physician

    Doctor

    Satisfied Customers:

    2562
    Emergency Medicine and Family Practice for over 26 years
  • http://ww2.justanswer.com/uploads/DR/drappapo/2013-8-16_22576_drdavid.64x64.jpg Dr. David's Avatar

    Dr. David

    Board Certified Physician

    Satisfied Customers:

    224
    Treat children/young adults, former chief resident, multiple publications
  • http://ww2.justanswer.com/uploads/DrDLove/2009-08-12_141522_DrDLove.jpg Dr. D. Love's Avatar

    Dr. D. Love

    Doctor

    Satisfied Customers:

    11961
    Family Physician for 10 years; Hospital Medical Director for 10 years.
  • http://ww2.justanswer.com/uploads/CO/commissure/2011-4-15_192514_REISD20080926JR1090.64x64.jpg Dr. David's Avatar

    Dr. David

    Board Certified Physician

    Satisfied Customers:

    10667
    Experienced Physician trained in New York City. I'm ready to help.
 
 
 

Related Medical Questions