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Am J Med Genet A. 2017 Dec;173(12):3153-3157. doi: 10.1002/ajmg.a.38497. Epub 2017 Oct 19.

Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.

Author information

1
Department of Obstetrics and Gynecology, Detroit Medical Center/Wayne State University, Detroit, Michigan.
2
Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Hospital, University of Pittsburgh, Pittsburgh, Pennsylvania.
3
Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
4
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.
5
Magee-Womens Research Institute, Pittsburgh, Pennsylvania.
6
Genescreen, Pittsburgh, Pennsylvania.

Abstract

Inverted isodicentric chromosome 21 is a rare form of chromosomal rearrangement that may result in trisomy 21; sometimes this rearrangement may also lead to segmental monosomy of the terminal long arm of chromosome 21. In this report, we describe the prenatal diagnosis and neonatal follow-up of a child with a paternally derived, de novo isodicentric chromosome 21 and a concurrent ∼1.2 Mb deletion of the 21q22.3 region [46,XX,idic(21)(q22.3)]. This child presented with unusual phenotype of Down syndrome and additional defects including esophageal atresia and tethered cord syndrome. The resulting phenotype in this infant might be a coalescence of the partial trisomy and monosomy 21, as well as homozygosity for idic (21). The utilization of chromosomal microarray in this case enabled accurate characterization of a rare chromosome abnormality, potentially contributes to future phenotype-genotype correlation and produced evidence for a molecular mechanism underlying this rearrangement.

KEYWORDS:

21q22.3 deletion; chromosomal microarray analysis (CMA); isodicentric 21; partial trisomy 21; prenatal diagnosis

PMID:
29048729
DOI:
10.1002/ajmg.a.38497
[Indexed for MEDLINE]

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