Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis

Trisomy 14 mosaicism is a rare chromosomal abnormality. It is associated with multiple congenital anomalies. We report a 15 year-old female with an unusual karyotype with three cell lines: 47,XX,+mar/47,XX,+14/46,XX. At six months old she had short stature, cleft palate, hyperpigmented linear spots...

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Veröffentlicht in:	Molecular cytogenetics 2014-09, Vol.7 (1), p.65, Article 65
Hauptverfasser:	Salas-Labadía, Consuelo, Lieberman, Esther, Cruz-Alcívar, Roberto, Navarrete-Meneses, Pilar, Gómez, Samuel, Cantú-Reyna, Consuelo, Buiting, Karin, Durán-McKinster, Carola, Pérez-Vera, Patricia
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report Case studies DNA microarrays Genetic aspects Instrument industry Mental illness Risk factors Skin
Online-Zugang:	Volltext
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