Partial trisomies of 8q and 15q due to maternal balanced translocations

Unbalanced translocation involving both chromosomes 8q and 15q trisomies are extremely rare events. We present two different cases with unbalanced chromosomal rearrangements both derived from maternal balanced translocations. The first case is a 4 year-old boy with speech delay, dysmorphic facial fe...

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Bibliographic Details
Published inGenetic counseling Vol. 23; no. 3; pp. 375 - 382
Main Authors Ozdemir, M, Yuksel, Z, Karaer, K, Tekin, N, Kucuk, H, Erzurumluoglu, E, Cilingir, O
Format Journal Article
LanguageEnglish
Published Switzerland Éditions Médecine et Hygiène 01.01.2012
Subjects
Abnormalities, Multiple - genetics
Child, Preschool
Chromosomes, Human, Pair 15 - genetics
Chromosomes, Human, Pair 8 - genetics
Humans
Infant, Newborn
Male
Translocation, Genetic - genetics
Trisomy - genetics
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Summary:Unbalanced translocation involving both chromosomes 8q and 15q trisomies are extremely rare events. We present two different cases with unbalanced chromosomal rearrangements both derived from maternal balanced translocations. The first case is a 4 year-old boy with speech delay, dysmorphic facial features (inc. cleft lip/palate), behavioural disturbances and growth retardation, who had partial 8q trisomy and partial 21p monosomy resulting from a maternal t(8;21) reciprocal translocation. The other case is a 2 day-old boy with ventriculomegaly, dysmorphic facial features and heart defects (patent ductus arteriosus and atrial septal defect) who had partial 15q trisomy and partial 9p monosomy resulting from a maternal t(9;15) reciprocal translocation.
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ISSN:1015-8146