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Y-CHROMOSOME
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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!
UPD (uniparental disomy) cases: | UPD Y mat |
UPD Y pat |
UPD Y unclear |
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the probably non-dosage sensitive pericentric region of Y-chromosome
SCHEMATIC CYTOGENETIC DEPICTION
SCHEMATIC MOLECULARGENETIC DEPICTION
acc. to UCSC Genome Browser on Human Mar. 2006 assembly [UCSC hg18, 2006]
and available BAC-data/ array-data from cases marked *** mentioned below [MB]
critical region ? --- ? uncritical region [11.20 centromere 12.50] uncritical region ? --- ? critical region
Below adapted for UCSC hg19, 2009
critical region ? --- ? uncritical region [11.60 centromere 13.40] uncritical region ? --- ? critical region
Clinical symptoms of centromere-near proximal imbalances
not done as they should not differ much from XYY-syndrome
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 | ||
0Y-O- pter/ 1-1 |
male/ prenatal |
AF | de novo | 47,X,i(Y)(qter→q11.221::q11.221→qter),+i(Y)(q11.221) | FISH multiple BAC probes | see below | {21} | |||
detected prenatally due to elevated blood serum AFP, by normal after birth; at 2 y an undescended testis surgically corrected; normal boy at 11y | ||||||||||
0Y-O- p11.1/ 1-1 |
female/ 27y |
PBL | n.a. | 47,XX,+mar[?%]/ 46,XX[?%] |
r(Y)(::p11.1→?q11.2::) | FISH, PCR | phenotypically normal woman, ICSI-patient | {11} {23} case Y-1 |
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0Y-O- p11.1/ 2-1 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[100%] | min(Y)(:p11.1→q11.1:) | cenM; subcenM | studied due to AMA | {0} provided by Dr Joksić, Belgrade, Serbia |
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0Y-O- q11.1/ 1-2 |
male/ 41y |
PBL | n.a. | 47,XY,+inv dup(Y)(q11.?1)[100%] | subcenM | normal male azoospermia | {23} case Y-2 |
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O-Cases with similar imbalances NOT caused by sSMC (O-IMB):
case no. | gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding result and FISH result incl. grade of mosaicism | test methods |
clinical symptoms | reference | ||
0Y-O- IMB- q11/ 1-1 |
male/ adult |
PBL | (paternal) | 46,X,der(Y)(pter→p11.23::q12→q11.1::p11.23→qter) | wcp Y | see below | {16} | ||
normal males (brothers) - abortions in female partner of one | |||||||||
O-cases with unclear/insufficient characterization of the sSMC (CO):
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 | ||
0Y- CO-1 |
male/ prenatal |
AF | de novo | 47,XY,+r[10]/ 46,XY[19] |
r(Y)(::p?→q12::)* | SKY; SatIII probe | see below | {3} case 1 {15} case 106 {23} case Y-3 |
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Amniocentesis due to advanced maternal age; pregnancy continued and normal child born, which develops normal at age of 3y | ||||||||||
0Y- CO-2 |
see 15-CO-1 | |||||||||
0Y- CO-3 |
n.a./ prenatal |
AF | de novo | 47,+mar[10]/ 46[10] |
r(Y) | cen probes wcp Y |
see below | {13} case 14 | ||
Amniocentesis due to advanced maternal age; normal child at 2y | ||||||||||
Cases with clinical findings (W)
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 | ||
0Y-W- p11.23/ 1-1 |
male/ 3y |
PBL | paternal | 47,XX,+r(Y)[100%] | r(Y)(::p11.32→q12::) | different probes | Klinefelter | {10} | ||
0Y-W- p11.2/ 1-1 |
male/ 13y |
PBL | de novo | 47,XY,+mar[32]/ 46,XY[5] |
inv dup(Y)(p11.2) | array-CGH | ADHD; hyperactivity | {20} case P-12 | ||
0Y-W- q11.1/ 1-1 |
male/ 4y |
PBL | n.a. | 47,X,idic(Y)(q11.1)x2[100%] | n.a. | see below | {17} | |||
developmental delay, dysmorphic features, hyperactivity, behavioral problems, moderate sensorineural hearing loss, skeletal abnormalities incl. radio-ulnar synostosis | ||||||||||
0Y-W- q11.2/ 1-1 |
male/ 9y |
PBL | de novo | 47,X,-Y,+inv dup(Y)x2[60%]/ 46,X,-Y,+inv dup(Y)[40%] |
inv dup(Y)(q11.2) | different probes | see below | {8} | ||
developmental delay, impulsive behavior, prominent alveolar ridges, long philtrum and skeletal abnormalities comprised of radio-ulnar synostosis, asymmetric limb length and fifth finger clinodactyly. | ||||||||||
0Y-W- q11.22~ 11.23/ 1-1 |
male/ 1 w |
PBL | de novo | 49,X,+4f(Y)[288]/ 48,X,+3f(Y)[54]/ 47,X,+2f(Y)[10]/ 46,X,+f(Y)[2]/ 45,X |
min(Y)(pter→Yq11.22~11.23)* | wcp Y, cep Y, cosY6.65 |
normal apart from scrotal hypospadias with sinus urogenitalis; rudimentary uterus | {7} | ||
W-Cases with similar imbalances NOT caused by sSMC (W-IMB)
none reported yet
W-cases with unclear/insufficient characterization of the sSMC (CW):
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 | ||
0Y- CW-1 |
male/ 13y |
PBL | de novo | 47,XY,+?Yq- karyotype was based - apart from banding cytogenetics - mainly on clinical signs | n.a. | n.a. | The boy has psychiatric symptoms typical of boys with the karyotype 47,XYY | {1} | ||
0Y- CW-2 |
male/ 22y |
PBL | paternal | 47,XY,+?Yq- karyotype was based - apart from banding cytogenetics - mainly on clinical signs. | n.a. | n.a. | see below | {2} | ||
Both had normal intelligence but personality traits look quite similar to those found to be characteristic in males with the karyotype 47,XYY | ||||||||||
0Y- CW-3 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[?%]/ 46,XY[?%] |
mar(Y) | DYZ3, cep Y, telYp | bilateral cryptorchidism, hypospadias | {14} case 7 | ||
0Y- CW-3 |
not clear/ newborn |
PBL | father has same Y-chromosome | 47,XX,+mar[10]/ 46,XX[40] |
r(Y) | cep Y | see below | {18} | ||
infant was born at term with no complications. Ambiguous genitalia were present with micropenis (1.2 cm stretched penile length), a descended right gonad, no gonad palpable on the left and severe hypospadias. A genitogram showed a large vagina and possible uterine structure with no evidence of a cervix. A scrotal ultrasound study identified the gonad in the right hemi-scrotum as a probable testis. The left gonad could not be identified.--> a descended right ovotestis, an undescended left dysgenetic testis and a uterus lacking endothelial uterine glands. The ovotestis was comprised of approximately 40% testis, 20% dysgenetic testis, 20% ovary, and 20% dysgenetic gonad. | ||||||||||
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 | ||
0Y- U-1 |
female/ prenatal |
AF | de novo | 47,XY,+mar[4]/ 46,XY[133] |
idic(Y)(q21) | centromeric probe X + Y; locus specific probe SRY |
see below | {0} provided by Dr. C. Kelbova, Cottbus, Germany | ||
chronically colitis ulcerosa with medication in the mother; child born without symptoms; idic turned out to be a cultural artifact | ||||||||||
0Y- U-2 |
male/ 3.5y |
PBL | de novo | 47,X,-Y,+marx2[100%] | min(Y)(:p11.31→q11.1:) min(Y)(:p11.2→q11.221:) |
MCB | speech and language delay, short stature, mild dysmorphism and Duane anomaly of the eye | {9} | ||
0Y- U-3 |
see mult 2-20 | |||||||||
0Y- U-4 |
male/ prenatal |
PBL | de novo | 47,XX,+mar[100%] | inv dup(Y)(p11.2) | array-CGH | studied due to previous child with Down syndrome | {20} case P-13 | ||
0Y- U-5 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[100%] | mar(Y)(pter→q11:) | array-CGH | detected prenatally; TOP | {22} case 11 | ||
0Y- U-6 |
n.a./ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(Y)(p11.1) | SRY, cep | detected prenatally | {0} provided by Dr. Huhle, Leipzig, Germany | ||
0Y- |
male/ postnatal |
PBL | n.a. | mos 47,XXY/ 47,XY,+mar |
mar(Y) | cepY; cepX |
Klinefelter syndrome |
{25} 18 cases |
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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 | ||
0- Us-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 | ||
0- Ud-1 |
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Cases with UPD (Uu)
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 | ||
0- Uu-1 |
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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 | ||
0Y-N- pt11.2/ 1-1 |
male/ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(Y)(pter→p11.2: :p11.2→pter) aCGH: pter to 10.07 MB |
midi, subcenM; aCGH |
see below | {19; 24} {20} case P-11 {0} |
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Amniocentesis due to advanced maternal age; normal in ultrasound; pregnancy terminated; no abnormalities observed | ||||||||||
0Y-N- qt11.23/ 1-1 |
female/ 28y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(Y)(qter→q11.23: :q11.23→qter) |
midi | normal female, infertile |
{0} provoded by Dr. Wagner and Stibbe, Hannover, Germany | ||
other neocentromere Y cases (no sSMC):
Bukvic N, Susca F, Gentile M, Tangari E, Ianniruberto A, Guanti G.
An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite.
Hum Genet. 1996 Apr;97(4):453-456.
Rivera H, Dominguez MG, Vasquez AI, Ramos AL, Fragoso R.
Centromeric association of a microchromosome in a Turner syndrome patient with a pseudodicentric Y.
Hum Genet. 1993 Nov;92(5):522-524.
Tyler-Smith C, Gimelli G, Giglio S, Floridia G, Pandya A, Terzoli G, Warburton PE, Earnshaw WC, Zuffardi O.
Transmission of a fully functional human neocentromere through three generations.
Am J Hum Genet. 1999 May;64(5):1440-4.
Warburton PE, Cooke CA, Bourassa S, Vafa O, Sullivan BA, Stetten G, Gimelli G, Warburton D, Tyler-Smith C, Sullivan KF, Poirier GG, Earnshaw WC.
Immunolocalization of CENP-A suggests a distinct nucleosome structure at the inner kinetochore plate of active centromeres.
Curr Biol. 1997 Nov 1;7(11):901-904.
Floridia G, Gimelli G, Zuffardi O, Earnshaw WC, Warburton PE, Tyler-Smith C.
A neocentromere in the DAZ region of the human Y chromosome.
Chromosoma. 2000;109(5):318-27.
Conde C, Chheng S, Wu J, Santini M, Kashork CD, Ware S, Scaglia F, Shaffer LG
A novel analphoid marker of the Y chromosome.
Am J Hum Genet 2001; Suppl 69:A765
Assumpcao JG, Berkofsky-Fessler W, Viguetti Campos N, Trevas Maciel-Guerra A, Li S, Melaragno MI, Palandi de Mello M, Warburton PE.
Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence.
Am J Med Genet. 2002 Dec 1;113(3):263-7.
N-Cases with similar imbalances NOT caused by sSMC (N-IMB)
none reported yet