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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Үндсэн зохиолчид:	Chumei Li, Vikas Mahajan, Jia-Chi Wang, Bosco Paes
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Elsevier 2013-06-01
Цуврал:	Pediatrics and Neonatology
Нөхцлүүд:	chromosome microarray derivative chromosome monosomy 3p25 multiple congenital anomalies trisomy 1q42
Онлайн хандалт:	http://www.sciencedirect.com/science/article/pii/S1875957213000107
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!