Trisomy 3p23----pter and monosomy 11q23----qter in an infant with two translocation carrier parents.
作者信息
Neu R L, Kousseff B G, Hardy D E, Essig Y P, Miller K L, Jervis G A, Tedesco T A
机构信息
Department of Pediatrics, University of South Florida College of Medicine, Tampa 33612-4799.
出版信息
J Med Genet. 1988 Sep;25(9):631-3. doi: 10.1136/jmg.25.9.631.
Abstract
A newborn male infant with multiple congenital abnormalities was found to be trisomic for 3p23----pter and monosomic for 11q23----qter. His parents were both carriers of a balanced reciprocal translocation. Considerable overlap in phenotype-karyotype correlations was found between the two chromosomal syndromes in the patient.
摘要
Zotero 插件