A Girl with Pervasive Developmental Disorder and Complex Chromosome Rearrangement Involving 8p and 10p

Autor/inn/en	Zwaigenbaum, L; Sonnenberg, L. K.; Heshka, T.; Eastwood, S.; Xu, J.
Titel	A Girl with Pervasive Developmental Disorder and Complex Chromosome Rearrangement Involving 8p and 10p
Quelle	In: Journal of Autism and Developmental Disorders, 35 (2005) 3, S.393-399 (7 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-005-3307-0
Schlagwörter	Females; Pervasive Developmental Disorders; Genetics; Developmental Delays; Cognitive Processes; Human Body; Young Children; Interpersonal Communication; Communication Skills; Case Studies; Foreign Countries; Canada + Suchen Sie Ihr Suchwort? Weibliches Geschlecht; Humangenetik; Entwicklungsverzögerung; Cognitive process; Kognitiver Prozess; Menschlicher Körper; Frühe Kindheit; Interpersonale Kommunikation; Kommunikationsstil; Case study; Fallstudie; Case Study; Ausland; Kanada
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 behaviors and significant difficulties with processing sensory input. Her karyotype is characterized by the presence of two derivative chromosomes; 46,XX, der(8)(10pter-greater than 10p12.32::8p12-greater than 8qter), der(10)(8pter-greater than 8p21.3::10p12.32-greater than 10p11.23::8 p21.3-greater than 8p12::10p11.23-greater than 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. (Author).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10