Fig. 3

Eight examples of CG-CNVs. Here examples of CG-CNVs are presented as characterized by molecular cytogenetic based hybridization done using probes and protocols as previously reported [15]. All eight studied persons were clinically normal and studied cytogenetically either prenatally, due to infertility or it was a parental analysis due to a clinically affected child. In each part of the figure the studied chromosome pair is indicated at top, the ‘abnormal’ chromosome is shown below the corresponding ‘normal’ homologue and the probes used are indicated right-side of the depicted chromosome. Each chromosome is shown twice: left side just in inverted DAPI-banding and right side fluorescence signals of applied probes on these chromosomes. a) A chromosomal enlargement of a short arm of a chromosome 15 was identified as a der(15)(pter- > p11.2::p12- > qter), i.e. an intrachromosomal direct duplication was observed. b) The enlarged short arm of a chromosome 21 showed an amplification of NOR-sequences, which can be described according to [15] as der(21)(p12amp). c) Similar as in Fig. 3a here a chromosome 22 showed an intrachromosomal direct duplication, however including even parts of cytoband 22q11.21, with a partial karyotype dic(22)(pter- > q11.21::p11.2- > qter). d) The result in this case with a strong signal of D22Z4 in 22p11.2 in one and an extremely weak signal of the same probe on the other chromosome 22 was interpreted as a t(22;22)(p11.2;p11.2). e) For chromosome 3 DAPI-banding is known to reveal multiple chromosomal heteromorphisms [15]. In this case here chromosome 3 depicted below showed even a conspicuous GTG-banding pattern (not shown). After application of the available pericentromeric probes for chromosome 3 it was obvious that none of the regions covered by those probes was involved in this alteration; still DAPI banding pattern was different and enlarged. Thus the conclusion was that a duplication of satellite I or III DNA reported for that region [15] must be amplified and thus the partial karyotype is: dup(3)(q11.2q11.2). f) In this case also GTG-banding already showed an aberrant pattern in the pericentric region of a chromosome 3 (not shown). However, here the probe D3Z1 showed two signal on the derivative chromosome 3. Together with the inverted DAPI-banding pattern an inv(3)(q11.1q11.2) was suggested. g) A similar pattern as for the derivative chromosome 3 from Fig. 3f was seen here for a chromosome 5 after applying the alphoid probe D5Z2 (identical to D1Z1 and D19Z3). Still, as D5Z2 is located in 5p11.1 only and an enlargement of DAPI-positive region in 5q was visible a der(5)(pter-> q11.1::p11.1- > p11.1:q11.1- > qter) was reported. h) On the chromosome 8 below an altered distal part of the short arm is visible. The probe RP11-122 N11 is specific for the known EV in this region; as is gives a significantly stronger signal on the derivative than on the normal chromosome 8 this prenatal case was considered to carry the known EV without clinical consequences. Later-on a healthy child was born