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Your search keyword '"M C, Gonzalez-Gonzalez"' showing total 1 results
Start Over Author "M C, Gonzalez-Gonzalez" Journal american journal of medical genetics
1 results on '"M C, Gonzalez-Gonzalez"'

1. Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child

Author

I, Lorda-Sanchez, I, Lopez-Pajares, M C, Roche, R, Sanz, M, Rodriguez de Alba, M C, Gonzalez-Gonzalez, A, Ibañez, C, Ramos, and C, Ayuso

Subjects
Intellectual Disability, Karyotyping, Chromosome Inversion, Humans, Infant, Chromosomes, Human, Pair 6, Female, Chromosome Deletion, Telomere, DNA Probes, In Situ Hybridization, Fluorescence
Abstract

We report on a girl with minor anomalies and developmental delay carrying an apparently balanced paracentric inversion of chromosome 6q (q22qter). Fluorescent in situ hybridization analysis demonstrated a deletion of the subtelomeric region of 6q. This illustrates the use of specific subtelomeric fluorescent in situ hybridization probes to detect cryptic deletions as an important cause of mental retardation in seemingly balanced chromosome rearrangements.

Published
2001

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