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Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p

✍ Scribed by Bodil Edman Ahlbom; Jan Wahlström; Robert Saalman; Claes Wadelius; Göran Annerén


Book ID
113987318
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
244 KB
Volume
46
Category
Article
ISSN
0003-3995

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We present two brothers with mental retardation, seizures disorder, generalized muscular hypertonia, kyphoscoliosis, minor anomalies and a prominent midface. GTG-banded chromosome analysis showed a derivative chromosome 14 without clues toward the origin of the rearrangement. Microdissection of the