tl_files/tiny_templates/Bilder TL/Header-sSMC.jpg

- sSMC -

Y-CHROMOSOME

References

 

             
  Cases without
clinical findings
6 Cases with
clinical findings
9 symptoms  
  similar imbalances - no clinical findings similar imbalances with clinical findings  
    'Turner syndrome'
with 46,X,der(Y)
   
  Cases with
unclear clinical correlation
Cases with
neocentromeres
2 tumor
0
 
  similar imbalances  
      DISCLAIMER      

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
 
           

 


the probably non-dosage sensitive pericentric region of Y-chromosome


SCHEMATIC CYTOGENETIC DEPICTION

tl_files/tiny_templates/Bilder TL/sSMC/sSMC-Y.jpg



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

 

References

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)(qterq11.221::q11.221qter),+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
 
  0Y-O-
p11.1/
2-1
male/
prenatal
AF n.a. 47,XY,+mar[100%] min(Y)(:p11.1q11.1:) cenM; subcenM studied due to AMA {0} provided by Dr Joksić, Belgrade, Serbia
 
  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
 
                     

 

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)(pterp11.23::q12q11.1::p11.23qter) 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
 
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
{6}
{15} case 109
 
  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
                     

 


References

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)(::p11.32q12::) 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)(pterYq11.22~11.23)* 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.
                     

 

 


References

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)(:p11.31q11.1:)
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 {12}  
  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)(pterq11:) 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-
U7 to
0Y-
U24

male/
postnatal
PBL n.a. mos 47,XXY/
47,XY,+mar
mar(Y) cepY;
cepX
Klinefelter
syndrome
{25}
18 cases
 
                     

 


References

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)(pterp11.2:
:p11.2
pter)
aCGH: pter to 10.07 MB
midi, subcenM;
aCGH
see below {19; 24}
{20} case P-11
{0}
 
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)(qterq11.23:
:q11.23qter)
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