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P-58 When transmission modifies the complexity of familial chromosome rearrangements

โœ Scribed by Gatinois, V.; Lefort, G.; Coubes, C.; Puechberty, J.; Schneider, A.; Taviaux, T.; Tournaire, M.; Di Nicola, M.; Girard, M.; Sarda, P.; Pellestor, F.


Book ID
122734782
Publisher
Reproductive Healthcare Ltd
Year
2013
Tongue
English
Weight
44 KB
Volume
26
Category
Article
ISSN
1472-6491

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Complex familial rearrangement of chromo
โœ Repetto, Gabriela M.; Wagstaff, Joseph; Korf, Bruce R.; Knoll, Joan H.M. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 15 KB ๐Ÿ‘ 1 views

We describe a newborn male with minor facial anomalies, pyloric stenosis, and a chromosome rearrangement that involves deletion and addition of material at 9p24.3. Routine studies showed a 46, XY, add (9) (p24) karyotype. Fluorescence in situ hybridization (FISH) with two different whole chromosome