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A balanced whole arm reciprocal translocation resulting in three different adverse pregnancy outcomes

Cooper, P J ; Towe, C ; Crolla, J A

Journal of medical genetics, 1993-05, Vol.30 (5), p.417-418 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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Título:
A balanced whole arm reciprocal translocation resulting in three different adverse pregnancy outcomes
Autor: Cooper, P J ; Towe, C ; Crolla, J A
Assuntos: Abnormalities, Multiple - genetics ; Abortion, Spontaneous - genetics ; Biological and medical sciences ; chromosome 13 ; chromosome 18 ; Chromosome aberrations ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 18 ; Cleft Lip - genetics ; Cleft Palate - genetics ; DNA Probes ; Ductus Arteriosus, Patent - genetics ; Female ; Fetal Death - genetics ; Fetal Growth Retardation - genetics ; Foot Deformities, Congenital - genetics ; Heart Septal Defects, Atrial - genetics ; Humans ; Male ; man ; Medical genetics ; Medical sciences ; Pedigree ; Pregnancy ; translocation ; Translocation, Genetic ; Trisomy
É parte de: Journal of medical genetics, 1993-05, Vol.30 (5), p.417-418
Notas: istex:3331A05D20DD759618FC1D8FE10423EFDB2BEB46
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Descrição: A family with a whole arm translocation t(13;18)(13p18p;13q18q) was ascertained through a stillbirth with clinical features suggestive of trisomy 18. Two subsequent pregnancies both spontaneously aborted; one was found to have a 69,XXX,t(13;18)mat chromosome constitution while the other had a 45,XY,-13,-18, + der(18)t(13;18)mat chromosome constitution.
Editor: London: BMJ Publishing Group Ltd
Idioma: Inglês

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A balanced whole arm reciprocal translocation resulting in three different adverse pregnancy outcomes

Cooper, P J ; Towe, C ; Crolla, J A

London: BMJ Publishing Group Ltd

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