Literature DB >> 16596677

Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities.

Mary J Seller1, Susan Bint, Fred Kavalier, Richard N Brown, Caroline Mackie Ogilvie.   

Abstract

We describe a fetus from an intracytoplasmic sperm injection (ICSI) pregnancy with severe facial clefts, receding jaw, preauricular skin tags, postaxial hexadactyly, bi-lobed right lung, supernumerary cranial bone, and dilated lateral ventricles of the brain. Using a combination of G-banding, fluorescence in situ hybridization (FISH), whole chromosome paints (WCPs), subtelomere probes, and multicolor banding (MCB), the karyotype was found to include a de novo unbalanced highly complex chromosome rearrangement (hCCR) involving chromosomes 3, 12, and 15 with seven breakpoints, and including monosomy for two separate regions of chromosome 12.

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Year:  2006        PMID: 16596677     DOI: 10.1002/ajmg.a.31214

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  3 in total

1.  A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences.

Authors:  Natalia Trpchevska; Ivanka Dimova; Tatyana Arabadji; Tanya Milachich; Svetlana Angelova; Magdalena Dimitrova; Mariela Hristova-Savova; Petya Andreeva; Tania Timeva; Atanas Shterev
Journal:  J Assist Reprod Genet       Date:  2017-02-24       Impact factor: 3.412

2.  A familial rearrangement(3;5;9) with paternal and maternal transmission leading to a duplication 3p/ deletion 5p infant.

Authors:  Horacio Rivera; María G Domínguez
Journal:  Clinics (Sao Paulo)       Date:  2012       Impact factor: 2.365

3.  Multicolor banding remains an important adjunct to array CGH and conventional karyotyping.

Authors:  Susan M Bint; Angela F Davies; Caroline Mackie Ogilvie
Journal:  Mol Cytogenet       Date:  2013-12-05       Impact factor: 2.009

  3 in total

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