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A case of trisomy 9p in a family with translocation 9/15

✍ Scribed by Petr Balíĉek; Jan Žižka; Josef Lichý


Publisher
Springer
Year
1975
Tongue
English
Weight
274 KB
Volume
27
Category
Article
ISSN
0340-6717

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Trisomy 9p resulting from de novo 9/15 t
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A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a ba

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A 5-year-old boy with multiple minor anomalies and mental retardation was found to have chromosomal condition of 46,XY,inv dup(9p) (pter leads to p13::p21 leads to p24::p13 leads to qter). The clinical features of the propositus fit well with those of trisomy 9p which have been established to be a c

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A low-birth-weight near-term male infant was found to have a non-familial 47,X¥ chromosome complement with an extra medimn-sized metacentrie chromosome slightly larger than a number 16. By Giemsa-trypsin (G-banding) this extra chromosome was determined to be a number 9 with deletion of approximately

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The authors report on a young girl with generalized developmental deficits originally thought to be caused by an unusual reaction to DPT vaccination. At the age of 4(1/2) years, chromosome analysis showed that the terminus of the short arm of chromosome 9 had extra material believed to originate fro