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Article

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.

American journal of medical genetics. Part A - 1 Jul 2011

Melis Daniela, Genesio Rita, Cappuccio Gerarda, MariaGinocchio Virginia, Casa Roberto Della, Menna Giuseppe, Buffardi Salvatore, Poggi Vincenzo, Leszle Anna, Imperati Floriana, Carella Massimo, Izzo Antonella, Del Giudice Ennio, Nitsch Lucio, Andria Generoso

Abstract excerpt

The region 21q22 is considered crucial for the pathogenesis of both Down syndrome (DS) and the partial monosomy 21q syndrome. Haploinsufficiency of the RUNX-1 gene, mapping at 21q22 is responsible for a platelet disorder and causes predisposition to myelodysplastic syndrome (MDS). We describe a 3-year-old girl with mental retardation, congenital heart malformation, and subtle dysmorphic facial features. The...

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Share to Chromosomes, Human, Pair 21
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 21671372
DOI: 10.1002/ajmg.a.33976

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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