Preferential maternal derivation in inv dup(15)
Maraschio, Paola ; Zuffardi, Orsetta ; Bernardi, Franca ; Bozzola, M. ; Paoli, C. ; Fonatsch, Christa ; Flatz, Sibylle D. ; Ghersini, Loretta ; Gimelli, G. ; Loi, M. ; Lorini, Renata ; Peretti, Diletta ; Poloni, Lisa ; Tonetti, Daniela ; Vanni, Roberta ; Zamboni, G.
Springer
Published 1981
Springer
Published 1981
| ISSN: |
1432-1203
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|---|---|
| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Biology
Medicine
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| Notes: |
15q12→15pter or 15pter→15q11::15q13→15pter. Analysis with various techniques of the satellite regions of the bisatellited chromosomes demonstrated maternal derivation in six and paternal derivation in one of the seven families. A nonsister chromatid exchange between the two homologous chromosomes 15 is considered a likely origin of the inv dup(15) in the cases with maternal derivation; in the only case of paternal derivation, however, the abnormal chromosome originated from one single chromosome 15. The clinical findings confirm that patients with inv dup(15) have mental and developmental retardation and are frequently affected by seizures, while severe physical malformations are absent.
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| Type of Medium: |
Electronic Resource
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| URL: |