Chromosome 6q duplication syndrome
A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material. Duplication of the long arm of chromosome 6 with intrauterine growth retardation, dolichocephaly, depressed nasal bridge, almond-shaped palpebral fissures, short neck, flexion contractures of the wrists, hypertonia, and retarded mental development.
People with a duplication of 6q have one intact chromosome 6, but they also have an extra piece of the other chromosome 6. This is very likely to affecttheir learning and physical development. Chromosomes contain genes and most of the clinical difficulties that someone with a 6q duplication faces are likely to be caused by having an extra copy of a number of genes. However, a child’s development, needs and achievements are also influenced by their other genes and personality.
Most likely features
- Some effect on development and learning ability
- Unusual facial features for the family
- Transient neonatal diabetes mellitus
- Small head
- Unusual genital features, typically in boys
- Unusual features of the kidneys, bladder and urine collection system
- Tightly bent joints
- Slow growth, in some cases starting in the womb before birth
- Brain anomalies
- Heart anomalies
Some effect on development and learning ability they need varies hugely - from children with only mild or possibly no delay to others with profound learning disabilities. In all, 34 out of 36 children and adults with a 6q duplication have experienced developmental delay, learning disabilities or both.
Development and learning: Duplications of the bottom parts of chromosome 6q (distal duplications)
Braeden has a micro-duplication at 6q25.3
Children with duplications of parts of the bottom of the long arm (roughly speaking between band 6q23 and the end) appear to need a moderate amount of support with their learning, but some will need more, especially when they have a particularly large duplication.
Reading and writing may well be possible for some, but as with children with a proximal duplication, a key focus of learning is likely to be skills needed for daily living. Reports of severe to profound developmental delay and learning disabilities occur in reports in the medical literature from a generation or more ago. Slow growth, in some cases starting in the womb before birth.
There is a tendency for children and adults with a 6q duplication to be short comparedwith others of their age. Around half of them are unusually short, regardless of theposition or size of the duplicated material.
How can communication be affected?
Communication skills are generally delayed but there is very wide variation betweenindividuals, with a spectrum ranging from some speaking in full sentences and singing from early childhood (albeit later than their brothers or sisters) to others who have limited and sometimes unclear speech and may restrict themselves to single words or monosyllables. As an adjunct, children use a wide variety of alternative means of communication, including tone, gesture, body language, facial expression, vocal noises, approximations and signing.
Families generally describe their children as happy and sociable, especially when the focus of attention, but prone to problem behaviours when frustrated, anxious, jealous, tired and possibly also when bored. Problem behaviours can be quite severe and include restlessness, skin picking, biting, repetitive movements such as rocking,head banging, spitting and targeted aggression. This can mean that the child is very demanding. Families actively
seek situations in which their child is relaxed and sociable, often enjoying 1:1 attention with an adult, and avoid situations that promote confusion and unresolvable anxiety.
Some children find body language hard to read and many do not respond as expected to pain. Overall, children may behave in some ways just like other children of their own age while in other ways they behave like a very much younger child. One child has been diagnosed with autism. While it is clear that others show behaviours within the autistic spectrum (especially repetitive movements), a formal diagnosis is not reached. Families facing persistent problem behaviours should seek advice and support from a behavioural therapist.
