Pure partial trisomy of the short arm of chromosome 5

We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32---5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with tho...

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Bibliographic Details
Published in:	Human genetics Vol. 82; no. 3; pp. 296 - 298
Main Authors:	RETHORE, M. O, DE BLOIS, M. C, PEETERS, M, POPOWSKI, P, PANGALOS, C, LEJEUNE, J
Format:	Journal Article
Language:	English
Published:	Heidelberg Springer 01-06-1989 Berlin New York, NY
Subjects:	Biological and medical sciences Chromosome aberrations Chromosome Banding Chromosomes, Human, Pair 5 Female Humans Infant Karyotyping Male Medical genetics Medical sciences Pedigree Trisomy Chromosomal aberration Human Partial trisomy Family study Stomatology B5-Chromosome Cytogenetics Abnormal chromosome Male Infant Dysmorphic facies
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