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

Author:

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

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy7p;Ahlbom;Ann Genet,2003

2. Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype;Barbi;Am J Med Genet,2000

3. Clinical phenotype of germline RUNX1 haploinsufficiency: From point mutations to large genomic deletions;Béri-Dexheimer;Eur J Hum Genet,2008

4. Prenatal diagnosis of trisomy 18p and distal 21q22.3 deletion;Chen;Prenat Diagn,2003

5. Molecular mapping of 21 features associated with partial monosomy 21: Involvement of the APP-SOD1 region;Chettouh;Am J Hum Genet,1995

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