Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3)

We describe a family carrying a submicroscopic reciprocal translocation involving 12qter and 17qter detected by subtelomeric FISH analysis. Four family members inherited unbalanced variants‐two cases inherited the derivative chromosome 12 and the other two the derivative chromosome 17. The two indiv...

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Veröffentlicht in:	American journal of medical genetics. Part A 2005-04, Vol.134A (3), p.254-258
Hauptverfasser:	Schoumans, Jacqueline, Sanner, Gunnar, Nordenskjöld, Magnus, Anderlid, Britt-Marie
Format:	Artikel
Sprache:	eng
Schlagworte:	12q 17q Adult autism Chromosome Aberrations Chromosomes, Human, Pair 12 - genetics Chromosomes, Human, Pair 17 - genetics deletion duplication Family Health Female Humans In Situ Hybridization, Fluorescence Karyotyping Male Medicin och hälsovetenskap mental retardation Middle Aged Pedigree subtelomeric Translocation, Genetic
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