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Dr. Randy Peters
Dr. Randy Peters, Doctor
Category: Medical
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Experience:  General Practice for 16 years, member of the American Society of Bariatric Physicians
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What will happen to a newborn that is missing chromosome 4?

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What will happen to a newborn that is missing chromosome 4?
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:
Customer: replied 7 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.
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.
Dr. Randy Peters, Doctor
Category: Medical
Satisfied Customers: 57
Experience: General Practice for 16 years, member of the American Society of Bariatric Physicians
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Customer: replied 7 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?
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):

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.