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Mental retardation, developmental delay, and partial psychomotor deficits in maternal uniparental disomy 7

✍ Scribed by Kotzot, Dieter


Book ID
113012400
Publisher
Springer
Year
2000
Tongue
English
Weight
40 KB
Volume
159
Category
Article
ISSN
0340-6997

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Mental and psychomotoric retardation in
✍ LοΏ½ffler, Judith; Utermann, Barbara; Duba, Hans C.; Mayr, Udo; Utermann, Gerd; Er πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 40 KB πŸ‘ 2 views

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