Trisomy 1q42→qter in a sister and brother: Further delineation of the "trisomy 1q42→qter Syndrome"

We report on a 22‐year‐old woman and her 21‐year‐old brother with mild mental retardation, long face, prominent forehead, retrognathia, and (relative) macrocephaly. At birth they were small for date, their length is now below the 10th centile. Chromosome analysis demonstrated a nearly pure trisomy 1...

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