Abnormal phenotype in a child with the same balanced translocation (5;7) (p15;q22) as his father

M. R. Caballin; R. Miro; J. Egozcue

Abnormal phenotype in a child with the same balanced translocation (5;7) (p15;q22) as his father

M. R. Caballin, R. Miro, J. Egozcue

Research output: Contribution to journal › Article › Research › peer-review

Abstract

A 10-month-old boy with male Turner phenotype and heart malformations showed the same balanced reciprocal translocation as his carrier father. The relationship between balanced chromosomal rearrangements and phenotypic anomalies, especially dominant syndromes with variable expression is discussed through a review of the literature.

Original language	English
Pages (from-to)	428-431
Journal	Clinical Genetics
Volume	20
Issue number	6
Publication status	Published - 1 Dec 1981

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title = "Abnormal phenotype in a child with the same balanced translocation (5;7) (p15;q22) as his father",

abstract = "A 10-month-old boy with male Turner phenotype and heart malformations showed the same balanced reciprocal translocation as his carrier father. The relationship between balanced chromosomal rearrangements and phenotypic anomalies, especially dominant syndromes with variable expression is discussed through a review of the literature.",

author = "Caballin, {M. R.} and R. Miro and J. Egozcue",

year = "1981",

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AU - Caballin, M. R.

AU - Miro, R.

AU - Egozcue, J.

PY - 1981/12/1

Y1 - 1981/12/1

N2 - A 10-month-old boy with male Turner phenotype and heart malformations showed the same balanced reciprocal translocation as his carrier father. The relationship between balanced chromosomal rearrangements and phenotypic anomalies, especially dominant syndromes with variable expression is discussed through a review of the literature.

AB - A 10-month-old boy with male Turner phenotype and heart malformations showed the same balanced reciprocal translocation as his carrier father. The relationship between balanced chromosomal rearrangements and phenotypic anomalies, especially dominant syndromes with variable expression is discussed through a review of the literature.

M3 - Article

SN - 0009-9163

VL - 20

SP - 428

EP - 431

JO - Clinical Genetics

JF - Clinical Genetics

IS - 6

ER -

Abnormal phenotype in a child with the same balanced translocation (5;7) (p15;q22) as his father

Abstract

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