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An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.

ABSTRACT: A prenatal case of a de novo interstitial deletion distal to 8q24 was reported. Ultrasound examination and postmortem evaluation demonstrated no apparent phenotypic alterations. Array CGH showed an 11.4-Mb loss in chromosome 8 ranging from 8q24.13 to 8q24.23. This case partially overlaps the 2 cases previously described in the literature.

SUBMITTER: Guanciali-Franchi P

PROVIDER: S-EPMC5260537 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

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An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.

Guanciali-Franchi Paolo P Celentano Claudio C Alfonsi Melissa M Palka Chiara C Di Pasqua Giulietta G Matarrelli Barbara B Palka Giandomenico G

Molecular syndromology 20161203 1

A prenatal case of a de novo interstitial deletion distal to 8q24 was reported. Ultrasound examination and postmortem evaluation demonstrated no apparent phenotypic alterations. Array CGH showed an 11.4-Mb loss in chromosome 8 ranging from 8q24.13 to 8q24.23. This case partially overlaps the 2 cases previously described in the literature. ...[more]

PMID: 28232782

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