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Partial trisomy 20p: Familial occurrence

✍ Scribed by Oppenheimer, Sonya ;Dignan, Peter ;Soukup, Shirley

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 247 KB
Volume: 95
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20001211)95:4<316::aid-ajmg4>3.0.co;2-z

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A girl with partial trisomy for the short arm of chromosome 10(p12leads to pter) due to mal chromosome segregation in the father 46,XY,t(7;10)(p22;p12) is described. The major abnormalities in this case are: mottled skin, mid-facial hypoplasia, low percentiles for weight, length, and head circumfere

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Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p--including our two patients--have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly, pro

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A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomali