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A couple have not yet been able to produce a viable child. They have had multipl

ID: 163436 • Letter: A

Question

A couple have not yet been able to produce a viable child. They have had multiple miscarriages and one severely defective child who died soon after birth. Studies of chromosomal banding patterns of father, mother, and child showed that all chromosomes were normal except for chromosome 6 shown on the right. Answer the following questions briefly. (1) does either parent have an abnormal chromosome? If so, what is the abnormality? (2) How did the chromosomes of the child arise? Be specific as to what events in teh parents gave rise to these chromosomes (3) why is the child not phenotypically normal? (4) What can be predicted about future conceptions by this couple?

: GILE III -ILM II 10 that Child Mother Father

Explanation / Answer

The disease that is associated with the chromosome 6 is very rare. Now we are here to talk about the abnormality that it is asscoiated with. As far as the genetic research is concerned with chromosomal studies we have found that it is spontaneous. While answering the question 1, we need to know that here none of the parent is having that abnormal parental condition from chromosome 6.

2. When the chromosome from parents getting transferred to their child, one from each parent chromosome get transferred, so here also that has happened. To know about the chromosome 6 abromality we must know that it is random and very rare, where the short arm of chromosome 6 , that is "p arm" and long arm "q arm"gets a cut, so become small in size, also it forms a ring like structure by joining its ends.The centromere of the two arm joinis with each other. Mostly from clinical trials we know that chromosome 6 abrormality is veriable, so it can be depend on specific location.

3. Gentotypic characteristics determines phenotypic expressions, thus we have the abormality in chromosome 6 that causes many symptoms to occur. In case of this disease, the child have different malformations, commonly associated with chromosome 6 ring, malformed ears, small jaw (micrognathia); nasal bridge is altered and flat, eyes are very much spaced, also severely it causes spontaneous error in embryonic development etc.

4. generally it could be known from prediagnosis, but if it happened once we know that parents have lower risk of having same problem with later childs.

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