Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH

Trisomy 9p is the fourth most common chromosome abnormality found in liveborns. We report on a rare case of partial trisomy 9p complicated by partial monosomy 9p. Clinical manifestation included craniofacial abnormalities typical for trisomy 9p syndrome, developmental delay, mental retardation and b...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Cytogenetic and genome research 2013-01, Vol.139 (1), p.9-16
Hauptverfasser:	Kowalczyk, M., Tomaszewska, A., Podbioł-Palenta, A., Constantinou, M., Wawrzkiewicz-Witkowska, A., Kowalski, J., Kałużewski, B., Zajączek, S., Srebniak, M.I.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormal Karyotype Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Chromosome Banding Chromosome Deletion Chromosome Duplication Chromosomes, Human, Pair 9 - genetics Comparative Genomic Hybridization Developmental Disabilities - diagnosis Developmental Disabilities - genetics Female Humans Infant Original Article
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!