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Fig. 1 | Molecular Cytogenetics

Fig. 1

From: MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent

Fig. 1

A familial case of 3′ MEIS2 deletion. a Pedigree of the family with deletion of 3′ MEIS2; black box indicates subject with speech delay and bifid uvula; arrow indicates the proband. b CMA analysis revealed an approximately 423 Kb interstitial deletion of the long arm of chromosome 15 in the proband (II-2). The CDIN1 gene is deleted, and 3′ part of MEIS2, including exons 10, 11, 12 of the NM_170676.5 transcript, is deleted. Colors and locations of FISH probes are indicated. c FISH analysis confirmed the deletion in the proband (II-2) and her brother (data not shown). d, e FISH analysis revealed mosaicism of the same deletion in the father [I-1; d normal metaphase and interphase cells; e abnormal metaphase and interphase cells with del(15)(q14q14)]

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Molecular Cytogenetics

ISSN: 1755-8166