Balkan Journal of Medical Genetics

ARRAY-COMPARATIVE GENOMIC HYBRIDIZATION RESULTS IN CLINICALLY AFFECTED CASES WITH APPARENTLY BALANCED CHROMOSOMAL REARRANGEMENTS
Satkin NB, Karaman B, Ergin S, Kayserili H, Kalelioglu IH, Has R, Yuksel A, Basaran S
*Corresponding Author: Nihan B. Satkin, Ph.D., Department of Medical Genetics, Istanbul University Faculty of Medicine, Millete Street, 34093, Istanbul, Turkey. Tel.: +90-536-561-0313. Fax: +90-212-414-2000. E-mail: bilgenihan@gmail.com
page: 25

RESULTS

Postnatal Cases. Postnatal cases (n = 21) consisted of four inversions, eight CCRs and nine translocations. Familial inheritance was found in seven cases (33.3%) (three inversions, four translocations) and 14 cases were de novo in origin (66.6%) (one inversion, five translocations and eight CCRs). Clinical findings, initial karyotypes, and CMA results of all cases are shown in Tables 1 and 2. No cryptic genomic imbalance by CMA was observed in familial cases (n = 7). Of 14 de novo cases, seven presented with at least one imbalance (50.0%). These CNVs were 12 deletions and one duplication, of which the size ranged from 1.1 Mb to 10.6 Mb. Five imbalances were at breakpoints or near to breakpoints of the rearrangements (38.4%), and eight were at different regions (61.5%). Of five de novo translocations, only one had a 4.8 Mb duplication (20.0%) at the breakpoint of the translocation (case 1) (Table 1). Chromosomal microarray revealed a deletion near to the breakpoint of a de novo inversion (case 10) (Table 1). All CCRs (n = 8) were de novo and CMA revealed 11 deletions in five of them (62.5%). Of 11 deletions, two were at breakpoints (cases 10 and 21), one was near to breakpoints (case 14) and eight were at different regions (cases 15, 16, 20, 21) (Table 1). Prenatal Cases. Of 13 prenatal cases, nine were translocations (two familial and seven de novo in origin), three were inversions (all familial), and one was de novo CCR. An imbalance has been found in two of 13 cases (15.4%) (cases 23 and 26) (Table 2); both were de novo translocations. The imbalance rate for de novo cases was 25.0%. One of the CNVs was a deletion 1.2 Mb in size at the breakpoint of rearrangement. Another one was a duplication 5.5 Mb in size on the same chromosome, but at different bands. This CNV was inherited from a healthy mother.

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