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Partial trisomy 10p and familial translocation t(7;10)(p22;p12)

โœ Scribed by George Johnson; Ronald Bachman; Terry Roed; Peggy Riddervold


Publisher
Springer
Year
1977
Tongue
English
Weight
376 KB
Volume
35
Category
Article
ISSN
0340-6717

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โœฆ Synopsis


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 circumference, and club feet.


๐Ÿ“œ SIMILAR VOLUMES


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Cytogenetic findings in a case of partial trisomy 6p due to a translocation t(6;20)(p21;p13) and eleven balanced translocation heterozygotes are described. The clinical data of the proposita are compared with those of five other published cases. A partial trisomy 6p syndrome is postulated, character

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Partial trisomy (interchromosomal duplication) of the short arm of chromosome No. 12 was observed in an infant girl with psychomotor retardation, prominent forehead, ptosis of the right eyelid, esotropia/exotropia, flat nose, hypotonia and other anomalies. A comparison of her features with those in

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