Trisomy 1q

Symptoms

What are the main symptoms of trisomy 1q?

Because trisomy 1q is rare, it is difficult to make a list of expected symptoms. Also, the features of the condition really depend based upon what area and how much of the DNA is duplicated on the q arm of chromosome 1.

A complete duplication of 1q is a likely a condition that will cause the pregnancy to miscarry or baby to pass away shortly after birth.

Some publications separate trisomy 1q (aka 1q duplication) into 5 areas, dependent upon which area of the q arm of the chromosome 1 is duplicated.

- Proximal duplications 1q11 to 1q32

These babies are usually the most severely affected as it is a large amount of DNA that is duplicated. Sometimes, the pregnancies are miscarried prior to delivery. For babies that survive through delivery, they may have have larger than average heads with large front fonantelle (soft spot) or they could have a smaller than average head size. It is not always consistent. The lower jaw is smaller than average and the roof of the mouth could be clefted. Certain joints may not bend the way they are supposed. There could also be a build-up of fluid on the brain. Feeding difficulties, developmental delays and intellectual disabilities are common. A variety of different heart defects have reported. Also, not all infants with proximal duplications 1q11 to 1q32 will have all the same symptoms or features. The larger the duplication, usually, the more severely affected.

- Duplications between bands 1q23-25 and 1q41

Babies with duplicates in this region can be born with large fontanelles that take longer to close than normal. Small lower jaws make feeding more difficult. High and narrow roof of mouth or a cleft in the palate (bone and tissue that makes up roof of mouth) is common. A variety of different heart defects have been reported. The learning disabilities are most often reported as mild, although some children with duplications in this region have severe disabilities.

- Large distal duplications between 1q31 band and far end of q arm

Slow fetal growth during pregnancy and low birth weight occurred. Growth continued to be delayed. Large fontanelle's (soft spots) and small bottoms jaws were also seen in children within duplications in this group. Heart defects seemed to be most common when the duplication included the 1q43 and 1q44 bands near the tip of the q arm. Kidney defects and other urinary problems were seen in this group. Most children had some level of learning disability.

-Small duplications from band 1q4

Birth weight is often low and slow growth continues after birth. The head is often larger in proportion to the body size. The head size often continues to be large through adulthood. The large fontanelles (soft spots) are seen in this group. Feeding difficulties and failure to thrive is also seen. Learning difficulties are highly variable with some children having no difficulties whereas some had mild to moderate difficulties. Heart defects continue to be common, but there were a variety of different types.

- Small terminal duplication: breakpoint in or near band 1q44

Very little information is available specific to this section because only one individual has been reported. The child's development, learning and growth was normal. A minor heart defect was noted that did not require surgery. One child is not enough to say what is expected for small duplications in this region.

For a picture that shows the different regions of the q arm of chromosome 1 click here and scroll down to page 3.

References
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More Symptoms Content

Are there earlier onset, later onset, or variant forms of trisomy 1q?

What health problems should I look for in trisomy 1q?

Any other diseases that look a lot like trisomy 1q?

Is there one or two characteristic "odd" or "unusual" symptom or clinical feature of trisomy 1q?

Is there variable expression or incomplete penetrance in trisomy 1q?

Are there earlier onset, later onset, or variant forms of trisomy 1q?

There are not early, late or variant onsets of Trisomy 1q. However, as individuals differ with how much of the DNA on the q arm of chromosome 1 is duplicated, they will have different features. Infants with large amounts of duplicated DNA will usually be more severely affected whereas those with smaller amounts of DNA duplicated may be more mildly affected.

What health problems should I look for in trisomy 1q?

Because trisomy 1q is rare, it is difficult to make a list of expected symptoms. Also, the features of the condition really depend based upon what area and how much of the DNA is duplicated on the q arm of chromosome 1.

A complete duplication of 1q is a likely a condition that will cause the pregnancy to miscarry or baby to pass away shortly after birth.

Some publications separate trisomy 1q (aka 1q duplication) into 5 areas, dependent upon which area of the q arm of the chromosome 1 is duplicated.

- Proximal duplications 1q11 to 1q32

These babies are usually the most severely affected as it is a large amount of DNA that is duplicated. Sometimes, the pregnancies are miscarried prior to delivery. For babies that survive through delivery, they may have have larger than average heads with large front fonantelle (soft spot) or they could have a smaller than average head size. It is not always consistent. The lower jaw is smaller than average and the roof of the mouth could be clefted. Certain joints may not bend the way they are supposed. There could also be a build-up of fluid on the brain. Feeding difficulties, developmental delays and intellectual disabilities are common. A variety of different heart defects have reported. Also, not all infants with proximal duplications 1q11 to 1q32 will have all the same symptoms or features. The larger the duplication, usually, the more severely affected.

- Duplications between bands 1q23-25 and 1q41

Babies with duplicates in this region can be born with large fontanelles that take longer to close than normal. Small lower jaws make feeding more difficult. High and narrow roof of mouth or a cleft in the palate (bone and tissue that makes up roof of mouth) is common. A variety of different heart defects have been reported. The learning disabilities are most often reported as mild, although some children with duplications in this region have severe disabilities.

- Large distal duplications between 1q31 band and far end of q arm

Slow fetal growth during pregnancy and low birth weight occurred. Growth continued to be delayed. Large fontanelle's (soft spots) and small bottoms jaws were also seen in children within duplications in this group. Heart defects seemed to be most common when the duplication included the 1q43 and 1q44 bands near the tip of the q arm. Kidney defects and other urinary problems were seen in this group. Most children had some level of learning disability.

-Small duplications from band 1q4

Birth weight is often low and slow growth continues after birth. The head is often larger in proportion to the body size. The head size often continues to be large through adulthood. The large fontanelles (soft spots) are seen in this group. Feeding difficulties and failure to thrive is also seen. Learning difficulties are highly variable with some children having no difficulties whereas some had mild to moderate difficulties. Heart defects continue to be common, but there were a variety of different types.

- Small terminal duplication: breakpoint in or near band 1q44

Very little information is available specific to this section because only one individual has been report. The child's development, learning and growth was normal. A minor heart defect was noted that did not require surgery. One child is not enough to say what is expected for small duplications in this region.

For a picture that shows the different regions of the q arm of chromosome 1 click here and scroll down to page 3.

References
Any other diseases that look a lot like trisomy 1q?

There are many genetic diseases with similar symptoms to trisomy 1q (aka 1q duplication). These include having duplicated (trisomic) or deleted (monosomic) DNA on other chromosomes. Trisomy 1q should be confirmed with genetic testing in order to diagnose the disorder.

References
Is there one or two characteristic "odd" or "unusual" symptom or clinical feature of trisomy 1q?

There is not one characteristic that is consistent to every infant/child with Trisomy 1q (aka 1q duplication). This is mostly because individuals differ with how much of the DNA on the q arm of chromosome 1 is duplicated, therefore will often have different features. Infants with large amounts of duplicated DNA will usually be more severely affected whereas those with smaller amounts of DNA duplicated may be more mildly affected.

In general, many infants with duplications on the q arm of chromosome 1 will have large fontanels (soft spots - areas between the bones in the infant skull) that often take longer to close than normal. Unique facial features can be seen which often include low-set ears that are tilted backward, small lower jaws and possibly asymmetrical faces. None of these features are so unique to trisomy 1q that a doctor would be able to diagnosis it without testing the chromosomes.

Is there variable expression or incomplete penetrance in trisomy 1q?

There is complete penetrance in trisomy 1q. This means that everyone who has an extra DNA of the q arm of their chromosome 1 has the disorder. However, not everyone will have the same exact signs or symptoms (variable expression.) This is because individuals differ with how much of the DNA on the q arm of chromosome 1 is duplicated. Infants with large amounts of duplicated DNA will usually be more severely affected whereas those with smaller amounts of DNA duplicated may be more mildly affected.

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