Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

Table 1 Cytogenetic results for lymphocytes and skin fibroblasts from the index patient

Cell type/duration of culturing or passage number	FISH
Cell type/duration of culturing or passage number	D14Z1/D22Z1×3	D14Z1/D22Z1×4		Total	% of cells with monosomy 22
Lymphocytes/72 h	41	438		479	8.56
Fibroblasts/P1	27	86		113	23.89
	Metaphase analysis
Cell type/duration of culturing	45,XX,-22	46,XX,r(22)	46,XX,+mar	Total	% of cells with monosomy 22
Lymphocytes/72 h	-	11	-	11	0

Footnotes. D14Z1/D22Z1×3 – monosomy 14 or 22; D14Z1/D22Z1×4 – two chromosomes 14 and 22; P1 – first passage

ISSN: 1755-8166