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1988•Journal of Medical GeneticsOpen access

Trisomy 3p23----pter and monosomy 11q23----qter in an infant with two translocation carrier parents.

RichardL. Neu, Boris G. Kousseff, Daniel Hardy, Y P Essig, Karen‐Lee Miller, George A. Jervis, Thomas A. Tedesco

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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.

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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.

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Available 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.

Key concepts: Chromosomal translocation, Monosomy, Trisomy, Karyotype, Genetics, Biology, Cytogenetics, Phenotype

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Trisomy 3p23----pter and monosomy 11q23----qter in an infant with two translocation carrier parents. — Research Paper | ScholarLens