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acrocentric derived CHROMOSOMES |
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In general 70% of sSMC carriers are clinically normal. The figures here
are based on the bias, that mainly clinically aberrant cases are reported in literature!
*** one more case at +21-cases
Cases without clinical findings (O)
| case no. | gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| acro- O-1 |
male/ 39y |
PBL | n.a. | 47,XY,+mar (bisatellited) | n.a. | n.a. | five consecutive spontaneous abortions of partner and no live born children | {1} case 1 | ||
| acro- O-2 |
male/ 31y |
PBL | familial (3 generations) |
47,XY,+mar (bisatellited) | n.a. | n.a. | 9 years of infertility in partnership before first child | {1} case 2 | ||
| acro- O-3 |
female/ 27y |
PBL | n.a. | 47,XX,+mar (metacentric) | rev ish. acrop++ | midi | normal woman - a child was lost a week 16 due to a karyotype 46,X,+mar | {8} case 2 | ||
| acro- O-4 |
see acro-N-mar/2 | |||||||||
| acro- O-5 |
male/ 29y |
PBL | n.a. | 47,XY,+mar (metacentric)[25%]/ 46,XY[75%] |
inv dup (acro)(p10) | cenM, M-FISH, acro-cenM | normal phenotype and no children in connection with OAT III syndrome | {9} case 111 | ||
| acro- O-6 |
male/ 23 or 32y |
PBL | n.a. | 47,XY,+mar (metacentric)[80%]/ 46,XY[20%] |
inv dup (acro)(p10)* | M-FISH | normal phenotype with fertility problems and azoospermia | {10; 12} | ||
| acro- O-7 |
male/ adult |
PBL | n.a. | 47,XY,+mar (metacentric)[23]/ 46,XY[7] |
inv dup (acro)(p10) | acro-cenM midi |
normal phenotype infertile | {0} provided by Anton Brovko. Ukraine | ||
| acro- O-8 |
male/ adult |
PBL | n.a. | 47,XY,+mar (metacentric)[50%]/ 46,XY[50%] |
inv dup (acro)(p10) | acro-cenM | normal phenotype infertile | {0} provided by Dr. Ergun, Turkey |
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| acro- O-9 |
female/ 28y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup (acro)(p10) | acro-cenM | normal phenotype infertile | {0} provided by Dr. Hehr, Regensburg, Germany | ||
| acro-15 O-1 |
male/ prenatal |
AF | n.a. | 47,XY,+mar (metacentric)[35%]/ 46,XY[65%] |
inv dup (15)(p10) D15Z1 in 15q11.2 present twice, but no alpha-satellite |
acro-cenM | advanced maternal age | {0} provided by Dr. Losan. Czech Rep |
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Cases with clinical findings (W)
none available
Cases with unclear clinical correlation (U)
| case no. | gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| acro- C-1 to 5 |
various/ prenatal |
AF | familial or de novo | 47,+mar | n.a. | n.a. | none or n.a. | {2} | ||
| acro- C-6 to 15 |
various/ prenatal or postnatal |
AF or PBL | familial or de novo | 47,+mar | n.a. | n.a. | none or n.a. | {3} | ||
| acro- C-16 to 79 |
various/ prenatal or postnatal |
AF or PBL | familial or de novo | 47,+mar | n.a. | n.a. | none or n.a. | review of literature before 1983 {3} | ||
| acro- C-80 |
various/ postnatal |
PBL | familial | 47,+mar (#15 was excluded) | n.a. | n.a. | none or n.a. | {4} | ||
| acro- C-81 to 111 |
various/ prenatal and postnatal |
AF and PBL | familial or de novo | 47,+mar | n.a. | n.a. | none or n.a. | {5} | ||
| acro- C-111 to 118 |
various/ prenatal and postnatal |
AF and PBL | familial or de novo | 47,+mar | n.a. | n.a. | none or n.a. | {6} | ||
| acro- C119 |
female/ n.a. |
PBL | familial | 47,XX,+mar | n.a. | n.a. | none in family; index case with Sturge-Weber syndrome | {7} | ||
Cases with complex sSMC (Uc)
| case no. | gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| acro- Uc-1 |
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Cases with discontinous sSMC (Ud)
| case no. | gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| acro- Ud-1 |
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Cases with UPD (Uu)
Cases with neocentromeres (N)
| case no. | gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| acro- N- mar/1 |
male/ 27y |
PBL | de novo | 47,XY,+mar[100%] | neo inv dup (acro)(p11) | acro cenM; CENPB and CENP C | normal phenotype - fertility problems | {13} case 3 |
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| acro- N- mar/2 |
male/ 40y |
PBL | n.a. | 47,XY,+mar (metacentric)[39]/ 46,XY[11] |
neo inv dup (acro)(p11) aCGH: no euchromatin detected |
acro-cenM; midi; CENPB and CENP C | normal man; planned ICSI | {9} case 110 {13} case 4 |
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| acro- N- mar/3 |
male/ 43y |
PBL | n.a. | 47,XY,+mar[100%] | neo inv dup (acro)(p11) | acro-cenM; CENPB and CENP C | normal man; infertile | {0} provided by Dr. Demuth, Erfurt, Germany | ||