Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome

Double translocation heterozygosity t(2;6),t(7;12) in three generations of a Dutch family is described: the segregation of a double translocation in more than one generation has not been previously published. The index case was a 16-year-old mentally retarded boy with partial trisomy 12p who showed...

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Bibliographic Details
Published inHuman genetics Vol. 40; no. 2; p. 135
Main Authors Bijlsma, J B, de France, H F, Bleeker-Wagemakers, L M, Dijkstra, P F
Format Journal Article
LanguageEnglish
Published Germany 01.01.1978
Subjects
Abnormalities, Multiple - genetics
Adolescent
Chromosomes, Human, 1-3
Chromosomes, Human, 6-12 and X
Heterozygote
Humans
Intellectual Disability - genetics
Karyotyping
Male
Pedigree
Translocation, Genetic
Trisomy
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Summary:Double translocation heterozygosity t(2;6),t(7;12) in three generations of a Dutch family is described: the segregation of a double translocation in more than one generation has not been previously published. The index case was a 16-year-old mentally retarded boy with partial trisomy 12p who showed several dysmorphic features such as high prominent forehead, flat face, flat and short nose bridge, short nose, dysplastic ears, prominent lower lip, and several skeletal abnormalities. Based on the findings in this patient and those in nine other cases, the existence of a specific trisomy 12p syndrome is postulated.
ISSN:0340-6717
DOI:10.1007/BF00272294