2 research outputs found
Pericentric inversion inv(7)(p11q21.1): report on two cases and genotype-phenotype correlations
We report on two unrelated cases of pericentric inversion 46,XY,inv(7)(p11q21.1) associated with distinct pattern of malformation including mental retardation, development delay, ectrodactyly, facial dismorphism, high arched palate. Additionally, one case was found to be characterized by mesodermal dysplasia. Cytogenetic analysis of the families indicated that one case was a paternally inherited inversion whereas another case was a maternally inherited one. Molecular cytogenetic studies have shown paternal inversion to have a breakpoint within centromeric heterochromatin being the cause of alphoid DNA loss. Maternal inversion was also associated with a breakpoint within centromeric heterochromatin as well as inverted euchromatic chromosome region flanked by two disrupted alphoid DNA blocks.ΠΠΏΠΈΡΠ°Π½Ρ Π΄Π²Π° Π½Π΅ΡΠΎΠ΄ΡΡΠ²Π΅Π½Π½ΡΡ
ΡΠ»ΡΡΠ°Ρ ΠΏΠ΅ΡΠΈΡΠ΅Π½ΡΡΠΈΡΠ΅ΡΠΊΠΎΠΉ ΠΈΠ½Π²Π΅ΡΡΠΈΠΈ 46,XY,inv(7)(p11q21.1), ΡΠ²ΡΠ·Π°Π½Π½ΠΎΠΉ Ρ ΡΠΌΡΡΠ²Π΅Π½Π½ΠΎΠΉ ΠΎΡΡΡΠ°Π»ΠΎΡΡΡΡ, Π·Π°Π΄Π΅ΡΠΆΠΊΠΎΠΉ ΡΠ°Π·Π²ΠΈΡΠΈΡ, ΡΠΊΡΡΠΎΠ΄Π°ΠΊΡΠΈΠ»ΠΈΠ΅ΠΉ, Π°Π½ΠΎΠΌΠ°Π»ΠΈΡΠΌΠΈ Π»ΠΈΡΠ°, Π³ΠΎΡΠΈΡΠ΅ΡΠΊΠΈΠΌ Π½Π΅Π±ΠΎΠΌ. ΠΠΎΠΌΠΈΠΌΠΎ ΡΡΠΎΠ³ΠΎ, Π² ΠΎΠ΄Π½ΠΎΠΌ ΡΠ»ΡΡΠ°Π΅ Π½Π°Π±Π»ΡΠ΄Π°Π»ΠΈ ΠΌΠ΅Π·ΠΎΠ΄Π΅ΡΠΌΠ°Π»ΡΠ½ΡΡ Π΄ΠΈΡΠΏΠ»Π°Π·ΠΈΡ. Π¦ΠΈΡΠΎΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠΉ Π°Π½Π°Π»ΠΈΠ· ΡΠ΅ΠΌΠ΅ΠΉ ΠΏΠΎΠΊΠ°Π·Π°Π», ΡΡΠΎ Π² ΠΎΠ΄Π½ΠΎΠΌ ΡΠ»ΡΡΠ°Π΅ ΠΈΠ½Π²Π΅ΡΡΠΈΡ ΠΈΠΌΠ΅Π»Π° ΠΎΡΡΠΎΠ²ΡΠΊΠΎΠ΅ ΠΏΡΠΎΠΈΡΡ
ΠΎΠΆΠ΄Π΅Π½ΠΈΠ΅, Π² Π΄ΡΡΠ³ΠΎΠΌ β ΠΌΠ°ΡΠ΅ΡΠΈΠ½ΡΠΊΠΎΠ΅. Π‘ ΠΏΠΎΠΌΠΎΡΡΡ ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΠΎ-ΡΠΈΡΠΎΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠΉ Π±ΡΠ»ΠΎ ΠΎΠΏΡΠ΅Π΄Π΅Π»Π΅Π½ΠΎ, ΡΡΠΎ ΡΠΎΡΠΊΠ° ΡΠ°Π·ΡΡΠ²Π° ΠΈΠ½Π²Π΅ΡΡΠΈΠΈ ΠΎΡΡΠΎΠ²ΡΠΊΠΎΠ³ΠΎ ΠΏΡΠΎΠΈΡΡ
ΠΎΠΆΠ΄Π΅Π½ΠΈΡ Π»ΠΎΠΊΠ°Π»ΠΈΠ·ΠΎΠ²Π°Π½Π° Π² ΡΠ΅Π½ΡΡΠΎΠΌΠ΅ΡΠ½ΠΎΠΌ Π³Π΅ΡΠ΅ΡΠΎΡ
ΡΠΎΠΌΠ°ΡΠΈΠ½Π΅ ΠΈ ΡΠ²ΡΠ·Π°Π½Π° Ρ ΠΏΠΎΡΠ΅ΡΠ΅ΠΉ Π°Π»ΡΡΠΎΠΈΠ΄Π½ΠΎΠΉ ΠΠΠ. ΠΡΠΈ Π°Π½Π°Π»ΠΈΠ·Π΅ ΠΈΠ½Π²Π΅ΡΡΠΈΠΈ ΠΌΠ°ΡΠ΅ΡΠΈΠ½ΡΠΊΠΎΠ³ΠΎ ΠΏΡΠΎΠΈΡΡ
ΠΎΠΆΠ΄Π΅Π½ΠΈΡ Π±ΡΠ»ΠΎ ΠΏΠΎΠΊΠ°Π·Π°Π½ΠΎ, ΡΡΠΎ ΡΠΎΡΠΊΠΈ ΡΠ°Π·ΡΡΠ²Π° ΡΠ°ΠΊΠΆΠ΅ Π»ΠΎΠΊΠ°Π»ΠΈΠ·ΠΎΠ²Π°Π½Ρ Π² ΡΠ΅Π½ΡΡΠΎΠΌΠ΅ΡΠ½ΠΎΠΌ Π³Π΅ΡΠ΅ΡΠΎΡ
ΡΠΎΠΌΠ°ΡΠΈΠ½Π΅ ΠΈ ΡΡΡ
ΡΠΎΠΌΠ°ΡΠΈΠ½Π΅ ΡΡΠ°ΡΡΠΊΠ° 7q21βq22, Π° ΡΠ°ΠΊΠΆΠ΅ ΠΈΠ²Π΅ΡΡΠΈΡΠΎΠ²Π°Π½Π½ΡΠΉ ΡΡΡ
ΡΠΎΠΌΠ°ΡΠΈΠ½ΠΎΠ²ΡΠΉ ΡΡΠ°ΡΡΠΎΠΊ ΡΠ°ΡΠΏΠΎΠ»ΠΎΠΆΠ΅Π½ ΠΌΠ΅ΠΆΠ΄Ρ Π΄Π²ΡΠΌΡ ΠΏΠ΅ΡΠ΅ΡΡΡΠΎΠ΅Π½Π½ΡΠΌΠΈ Π±Π»ΠΎΠΊΠ°ΠΌΠΈ Π°Π»ΡΡΠΎΠΈΠ΄Π½ΠΎΠΉ ΠΠΠ