ChromosOmics - Database

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                                                  -  Y-CHROMOSOME -                                                 
ABNORMAL
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) aCGH 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. n.a. DD, DYS, hyperactivity, behavioral problems, moderate sensorineural hearing loss, skeletal abnormalities incl. radio-ulnar synostosis {17}
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 DD, impulsive behavior, prominent alveolar ridges, long philtrum and skeletal abnormalities comprised of radio-ulnar synostosis, asymmetric limb length and fifth finger clinodactyly. {8}
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)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
Inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
0Y-
W-
IMB-
p or q/
1-1 		-
 		-
 		-
 		-
 		-
 		-
 		-

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-
4
 		not clear/
newborn 		PBL father has same Y-chromosome
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.
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