A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings

Author:

Mori María A.,Lapunzina Pablo,Delicado Alicia,Núñez Guillermo,Rodríguez José I.,de Torres María L.,Herrero Francisco,Valverde Eva,López-Pajares Isidora

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference35 articles.

1. Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novounbalanced translocation t(18p;21q) by fluorescence in situ hybridisation;Alkan;Genet Couns,2002

2. A male infant with holoprosencephaly, associated with ring chromosome 21;Aronson;Clin Genet,1987

3. Congenital Heart disease in monosomy 21: Definition of two distinct loci;Barlow;Am J Hum Genet,1999

4. Normal phenotype with paternal uniparental isodisomy for chromosome 21;Blouin;Am J Hum Genet,1993

5. Prenatal diagnosis of a fetus wirh megacystis and monosomy 21;Chang;Prent Diagn,2001

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