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

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


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
193 KB
Volume
127A
Category
Article
ISSN
1552-4825

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We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3-qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and the regions of duplication and deletion were defin