Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21)

A male infant with static antenatal encephalopathy and epilepsy was found to have a duplication of 5p12→5pter and deficiency of 10p13→10pter. Each of his parents was a carrier of a balanced reciprocal translocation. A third translocation was found in the maternal grandfather. The pedigree of each tr...

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Veröffentlicht in:	American journal of medical genetics 1992-03, Vol.42 (5), p.716-719
Hauptverfasser:	Telvi, Louise, Folhen, Martine, Raoul, Odile, Feingold, Josué, Ponsot, Gérard, Pompidou, Alain, Rethoré, Marie O., Lejeune, Jérǒme
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acids - analysis antenatal encephalopathy Biological and medical sciences Brain Diseases - embryology Brain Diseases - genetics chromosome 10 chromosome 15 chromosome 21 chromosome 3 chromosome 4 chromosome 5 Chromosome aberrations Chromosome Deletion Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 5 del(10p) double translocation dup(5p) epilepsy Epilepsy - genetics Genetic Carrier Screening Humans Infant Karyotyping Male Medical genetics Medical sciences Multigene Family - genetics Pedigree translocation Translocation, Genetic - genetics
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Beschreibung
Zusammenfassung:	A male infant with static antenatal encephalopathy and epilepsy was found to have a duplication of 5p12→5pter and deficiency of 10p13→10pter. Each of his parents was a carrier of a balanced reciprocal translocation. A third translocation was found in the maternal grandfather. The pedigree of each translocation and the segregation of parental reciprocal translocations are discussed.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320420518