A girl with pervasive developmental disorder and complex chromosome rearrangement involving 8p and 10p.
Rare chromosome swaps involving 8p and 10p can underlie some cases of pervasive developmental disorder.
01Research in Context
What this study did
Doctors looked at one 4-year-old girl who had pervasive developmental disorder.
They checked her chromosomes and found a rare mix-up: pieces of chromosome 8p and 10p were swapped around.
The report simply describes the girl and the genetic finding; no therapy was tested.
What they found
The odd 8p and 10p rearrangement had never been seen before in a child with PDD.
The authors say this spot on the chromosomes might hold new autism-risk genes.
How this fits with other research
Papanikolaou et al. (2006) soon after saw a different girl with extra 8p material and autism.
Together the two case reports point to the 8p region as important for ASD.
Estécio et al. (2002) screened 30 Brazilian youths and found chromosome problems in 13%.
That bigger set makes the single 8p/10p girl more believable, not just a fluke.
Gaily et al. (1998) looked at 92 children and found only 3% had chromosome changes.
The lower number does not clash with the 8p/10p case; it shows rare anomalies are easy to miss without detailed testing.
Why it matters
If you work with a child who has autism plus odd facial or medical features, ask the family about genetic testing.
Finding a clear chromosomal cause can end the diagnostic search, guide medical care, and help parents understand recurrence risk.
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02At a glance
03Original abstract
We report a 4-year-old girl with a de novo, apparently balanced complex chromosome rearrangement. She initially presented for assessment of velopharyngeal insufficiency due to hypernasal speech. She has distinctive facial features (long face, broad nasal bridge, and protuberant ears with simplified helices), bifid uvula, strabismus, and joint laxity. She is developmentally delayed, with language and cognitive skills approximately 2 SD below the mean expected for her age, and meets ADI, ADOS, and DSM-IV criteria for pervasive developmental disorder. She has poor eye contact, atypical communication and social interaction, repetitive behaviours and significant difficulties with processing sensory input. Her karyotype is characterized by the presence of two derivative chromosomes; 46,XX, der(8)(10pter- >10pl2.32::8p12- >8qter), der(l0)(8pter- >8p21.3::10p12.32- >10p11.23::8p21.3- > 8p12::10p11.23- >l0qter). The der(8) is a result of translocation of the segment 10p12.32-pter onto 8p12. The der(l0) has two 8p segments collectively from 8p12-pter in that the segment 8p21.3-pter is translocated onto 10p12.32 and the segment 8p12-p21.3 is inserted at 10p11.23. FISH analysis showed no microdeletion of the major locus at 22q11.2 nor for the minor locus at 10p13p14. This case suggests that aberrations at 8p12, 8p21.3, 10p11.23 and/or 10p12.32 may result in pervasive developmental disorder, associated with mild cognitive delay and specific facial anomalies.
Journal of autism and developmental disorders, 2005 · doi:10.1007/s10803-005-3307-0