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Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

✍ Scribed by Loeffler, Judith ;Soelder, Elisabeth ;Erdel, Martin ;Utermann, Barbara ;Janecke, Andreas ;Duba, Hans-Christoph ;Utermann, Gerd


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
160 KB
Volume
116A
Category
Article
ISSN
0148-7299

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## Abstract In the neurodevelopmentally impaired population the frequency of small supernumerary marker chromosomes (sSMC) is about 0.3%. To find the origin of a sSMC in a 4‐year‐old boy with Asperger syndrome (AS) a microarray‐based comparative genomic hybridization (aCGH), using a 135K‐feature wh