Detection of submicroscopic subtelomeric chromosome translocations: A new case study

Two sisters presented with multiple congenital abnormalities and developmental delay; abnormalities elsewhere in their extended family suggested that their father carried a balanced translocation. G‐banded chromosome analysis showed apparently normal karyotypes. Fluorescence in situ hybridisation (F...

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Veröffentlicht in:	American journal of medical genetics 2000-03, Vol.91 (1), p.51-55
Hauptverfasser:	Warburton, Pamela, Mohammed, Shehla, Ogilvie, Caroline Mackie
Format:	Artikel
Sprache:	eng
Schlagworte:	16 Adolescent Biological and medical sciences Chromosome aberrations Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 16 - genetics cryptic translocation Family Health Female FISH Humans In Situ Hybridization, Fluorescence Karyotyping Male Medical genetics Medical sciences Pedigree subtelomeric probes t(1 16) Telomere - genetics Translocation, Genetic
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