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De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH

Curotti, G.; Benkhalifa, M.; Raybaud, C.; Picard, F.; Bellec, V.; Qumsiyeh, M.B.

Genetic Counseling 10(3): 259-264

1999

ISSN/ISBN: 1015-8146
PMID: 10546097
Document Number: 502428
We report on a child with ptosis, epicanthal folds, depressed nasal bridge, carp-shaped mouth, low set ears, hirsutism, pectus excavatum, and developmental and language delay presenting with a balanced complex chromosomal rearrangement (CCR). R- and G-banding methods and fluorescence in situ hybridization were used to document that this is a complex translocation with five breakpoints involving chromosomes 1, 7, 10 and 21.

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