Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death

Albeit rare, 3pter-p25 monosomy or 1q42-qter trisomy syndromes have been documented in the literature. Here, we report a unique case with a combination of 3pter-p25 monosomy and 1q42-qter trisomy, delineated by array comparative genomic hybridization analysis. The proband was a newborn male with mul...

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Bibliografski detalji
Glavni autori: Chumei Li (Autor), Vikas Mahajan (Autor), Jia-Chi Wang (Autor), Bosco Paes (Autor)
Format: Knjiga
Izdano: Elsevier, 2013-06-01T00:00:00Z.
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