A Girl with Pervasive Developmental Disorder and Complex Chromosome Rearrangement Involving 8p and 10p Article DOI:
Cite this article as: Zwaigenbaum, L., Sonnenberg, L., Heshka, T. et al. J Autism Dev Disord (2005) 35: 393. doi:10.1007/s10803-005-3307-0 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 perva- sive 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->10p12.32::8p12−>8qter), der(10)(8pter->8p21.3::10p12.32−>10p11.23::8 p21.3−> 8p12::10p11.23−>10qter). The der(8) is a result of translocation of the segment 10p12.32−pter onto 8p12. The der(10) 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. Keywords Pervasive developmental disorder complex chromosome rearrangement 8p translocation and insertion 10p translocation References
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