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

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Resum

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.

Idioma original	Anglès
Pàgines (de-a)	428-431
Revista	Clinical Genetics
Volum	20
Número	6
Estat de la publicació	Publicada - 1 de des. 1981

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https://www.scopus.com/pages/publications/0019838373

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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",

month = dec,

day = "1",

language = "English",

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pages = "428--431",

journal = "Clinical Genetics",

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publisher = "Wiley-Blackwell Publishing Ltd",

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T1 - Abnormal phenotype in a child with the same balanced translocation (5;7) (p15;q22) as his father

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.

UR - https://www.scopus.com/pages/publications/0019838373

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

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