Abstract:
:A 12 month-old male patient with a karyotype 46,XY,-15,+der(15),t(13;15)(q22;q26)pat is presented. His stillborn sib showed malformations compatible with the 13q deletion syndrome, probably due to a 46,XY,der(13) karyotype. Phenotypic analysis of 41 cases from the literature with partial distal 13q (D13q) trisomies indicate that the segment 13q22----qter in trisomy with or without another concomitant aneusomy is sufficient to produce the majority of the trisomy 13 syndrome features, some of which (cleft palate, increased HbF and projections in PMN) are present in different non-overlapping partial 13q trisomies. About 82% of the D13q trisomies are inherited, more frequently from the mother.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Rivas F,Rivera H,Plascencia ML,Ibarra B,Cantú JMdoi
10.1007/BF00270563subject
Has Abstractpub_date
1984-01-01 00:00:00pages
86-93issue
1eissn
0340-6717issn
1432-1203journal_volume
67pub_type
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