Balkan Journal of Medical Genetics

MOLECULAR CYTOGENETIC CHARACTERIZATION OF AN inv(Y)(p11.2q11.221~q11.222) IN A SYRIAN FAMILY
Al-Achkar W1,*, Wafa A1, Al-Ablog A1, Moassass F1, Liehr T2
*Corresponding Author: Professor Walid Al-Aachkar, Department of Molecular Biology and Biotechnology, Division of Human Genetics, Atomic Energy Commission of Syria, P.O. Box 6091, Damascus, Syria; Tel.: +963- 11-213-2580; Fax: +963-11-611-2289; E-mail: ascientific@aec.org.sy
page: 73

RESULTS

Cytogenetic, Molecular Cytogenetic and Molecular Analyses. The karyotype determined by GTGbanding was 46,X,der(Y) (Figure 1). Fluorescent in situ hybridization using commercial Y-chromosomespecific probes revealed that sex determining region (SRY), AZF, Yq-heterochromatin and subtelomeric probes were in the expected positions (data not shown). Only the subcenM-FISH mix results showed the presence of a pericentric inversion (Figure 2) characterized as 46,X,inv(Y)(p11.2q11.221~q11. 222) (20/ metaphases). On the molecular level, the breaks appeared between the centromere and RP11-115H13, i.e., positions 6,919,727 and 11,300,000 as well as slightly distal from RP11-71M14, i.e., from position 15,173,599. Thus, the main cluster of RNAbinding motif Y-chromosome (RBMY) in Yq11.223 to Yq11.222 and the proximal deleted azoospermia) CDY (gene in Yq11.221. Molecular genetic analysis for 26 sequence-tagged sites) STSs (Y-chromosome specific excluded AZF microdeletions in the family (data not shown).

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