18q- syndrome in mother and daughter

18q- syndrome in mother and daughter

The 18q- syndrome is described in a mother and her daughter. In both of them an identical, apparently balanced 18q-/14p+ translocation was found (Karyotype: 46,XX,t(14;18)(p11;q21), suggesting that chromosomal material was lost in the process of translocation. The segment deleted and responsible for...

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Veröffentlicht in:European journal of pediatrics 1979-09, Vol.130 (3), p.189-192
Hauptverfasser: Fryns, J P, Logghe, N, van Eygen, M, van den Berghe, H
Format: Artikel
Sprache:eng
Schlagworte:
Child
Chromosome Deletion
Chromosomes, Human, 16-18
Female
Humans
Intellectual Disability - genetics
Karyotyping
Middle Aged
Syndrome
Translocation, Genetic
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Beschreibung
Zusammenfassung:The 18q- syndrome is described in a mother and her daughter. In both of them an identical, apparently balanced 18q-/14p+ translocation was found (Karyotype: 46,XX,t(14;18)(p11;q21), suggesting that chromosomal material was lost in the process of translocation. The segment deleted and responsible for the 18q- phenotype must be located in or near band 18q21, in which the break is assumed to have occurred.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF00455265