Article
An unusual familial chromosome 9 "variant" with variable phenotype: characterization by CGH analysis.
Morphologie : bulletin de l'Association des anatomistes - 1 Jun 2005
Goumy C, Mihaescu M, Tchirkov A, Giollant M, Bonnet-Dupeyron M N, Jaffray J Y, Geneix A, Perissel B, Francannet C, Boespflug-Tanguy O, Vago P
Abstract excerpt
Heterochromatin confined to pericentromeric and secondary constriction regions plays a major role in morphological variation of chromosome 9, because of its size and affinity for pericentric inversion. We report on a 6-year-old boy with growth and language delay, minor facial anomalies and unusual chromosome 9 variant with an extra-band in the centromeric region on the conventional karyotype. Subsequent analysis...
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