CASES WITH UNIPARENTAL DISOMY - paternal UPD 15 -

  References

 

 

 

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 References

pat UPD cases without clinical findings and normal karyotype

 

NO REPORTS YET

 

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 References

pat UPD cases without clinical findings and balanced karyotype

 

NO REPORTS YET

 

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 References

pat UPD cases without clinical findings and sSMC

 

NO REPORTS YET

 

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 References

pat UPD cases without clinical findings and other imbalances

 

	case no.	gender	age at diagnosis	studied  material	GTG-banding result grade of mosaicism	clinical symptoms	reference
	15- OpU- bal/ 1-1	female	prenatal	AF	46,X,der(X)t(X;15)(q22.3;q11.2)	normal child born due to X-inactivation spread to der(X); child normal with growth delay	{497}

 

 

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 References

pat segmental UPD cases without clinical findings

 

NO REPORTS YET

 

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 References

pat UPD cases with clinical findings or unclear correlation and normal karyotype

 

	case no.	gender	age at diagnosis	studied  material	GTG-banding result grade of mosaicism	clinical symptoms	reference
	15- WpU- N/1-1 to 2	female	childhood	PBL	46,XX	AS	{113}2 cases; {308}
	15- WpU- N/1-3 to 5	n.a.	childhood	PBL	n.a.	AS	{131} 3 cases; {308}
	15- WpU- N/1-6	female	6y	PBL	n.a.	AS	{145} patient 2
	15- WpU- N/1-7	male	18y	PBL	n.a.	AS; autism, severe MR	{150} patient 4
	15- WpU- N/1-8 to 12	male and female	childhood	PBL	n.a.	AS	{185} cases 9-13
	15- WpU- N/1-13	female	8y	PBL	46,XX	AS	{194} case 32
	15- WpU- N/1-14	female	childhood	PBL	n.a.	AS	{185} cases 9-13
	15- WpU- N/1-15	female	6y	PBL	46,XX	AS	{197}
	15- WpU- N/1-16 to 17	female and male	6m and 6y	PBL	46,XX and 46,XY	AS	{253}  cases W1 and D1
	15- WpU- N/1-18 to 19	n.a.	n.a.	n.a.	n.a.	AS	{273}  2 cases
	15- WpU- N/1-20	n.a.	postnatal	n.a.	n.a.	AS	{278}
	15- WpU- N/1-21	n.a.	postnatal	n.a.	46,XN	AS	{281} 1 case
	15- WpU- N/1-22	female	10y	PBL	46,XX	AS	{294}
	15- WpU- N/1-23 to 29	male and female	postnatal	PBL	46,XN	AS	{302} 7 cases
	15- WpU- N/1-30 to 44	8male and 9 female	postnatal	PBL	46,XN, 2x n.a.	AS	{308} 14 cases; {566} 4 cases
	15- WpU- N/1-45	n.a.	postnatal	PBL	n.a.	AS	{514} 1 case
	15- WpU- N/1-46	male	41m	PBL	46,XX	AS	{192}
	15- WpU- N/1-47 to 49	n.a.	postnatal	PBL	46,XN	AS	{314} 3 cases
	15- WpU- N/1-50 to 53	n.a.	postnatal	PBL	46,XN	AS	{359} 4 cases
	15- WpU- N/1-54  to 55	male and female	postnatal	PBL	46,XN	AS	{393} 2 cases
	15- WpU- N/1-56  to 62	male and female	n.a.	n.a.	n.a.	AS	{475} 7 cases
	15- WpU- N/1-63 to 65	1x male, 2x female	postnatal	PBL	46,XN	AS	{528} cases 28-30
	15- WpU- N1-66	female	postnatal	PBL	46,XX	AS	{530}
	15- WpU- N/1-67	male	prenatal	AF	46,XY (chr. 15p with identical pat. heteromorphism)	AS	{593}
	15- WpU- N/1-68  to 73	n.a.	postnatal	PBL	n.a.	AS	{595} 6 cases
	15- WpU- N/1-74	n.a.	postnatal	PBL	n.a.	AS	{349} 1 case
	15- WpU- N/1-75	n.a.	postnatal	PBL	n.a.	AS	{606} 1 case
	15- WpU- N/1-76	n.a.	4m	PBL	n.a.	AS (iso UPD 15)	{619}case 12
	15- WpU- N/1-77	n.a.	9y	PBL	n.a.	AS (iso UPD 15)	{619}case 14
	15- WpU- N/1-78 to 79	n.a.	postnatal	PBL	n.a.	AS	{627}2 cases
	15- WpU- N/1-80 to 81	n.a.	postnatal	PBL	n.a.	AS	{641} 2 cases
	15- WpU- N/2-1	n.a.	postnatal	PBL	46,XN	n.a. in detail; clinically abnormal	{163} case 23

 

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 References

pat UPD cases with clinical findings or unclear correlation and balanced karyotype

 

	case no.	gender	age at diagnosis	studied  material	GTG-banding result grade of mosaicism	clinical symptoms	reference
	15- WpU- bal/ 1-1	male	6.5y	PBL	45,XY,der(13;15)(q10;q10) besides pat UPD 15 also pat UPD 13q14.3	Angelman syndrome	{357}
	15- WpU- bal/ 1-2	female	12y	PBL	45,XX,der(13;15)(q10;q10)pat	Angelman syndrome	{527}
	15- WpU- bal/ 1-3	male	5y	PBL	45,XY,der(13;15)(q10;q10)pat	Angelman syndrome	{0}case provided by Dipl.-Med. P Sitte-Zöllner, Apolda, Germany
	15- WpU- bal/ 1-2	female	12y	PBL	45,XX,der(13;15)(q10;q10)pat	Angelman syndrome	{527}
	15- WpU- bal/ 2-1	n.a.	postnatal	PBL	45,der(14;15)(q10;q10)pat	Angelman syndrome	{98}1 case
	15- WpU- bal/ 2-2	female	postnatal	PBL	45,XX,der(14;15)(q10;q10)mat	Angelman syndrome	{448}
	15- WpU- bal/ 2-3	male	postnatal	PBL	45,XX,der(14;15)(q10;q10)mat	Angelman syndrome	{528} case 21 and {308}
	15- WpU- bal/ 3-1	male	postnatal	PBL	45,XY,der(15;15)(q10;q10)dn	Angelman syndrome	{182}
	15- WpU- bal/ 3-2	male	postnatal	PBL	45,XY,der(15;15)(q10;q10)	Angelman syndrome	{355}
	15- WpU- bal/ 3-3 to 4	n.a.	n.a.	n.a.	45,der(15;15)(q10;q10)	Angelman syndrome	{418} 2 cases
	15- WpU- bal/ 3-5	male	postnatal	PBL	45,XY,der(15;15)(q10;q10)	Angelman syndrome	{419}
	15- WpU- bal/ 3-6	male	newborn	PBL	45,XY,der(15;15)(q10;q10)	Angelman syndrome	{442}
	15- WpU- bal/ 3-7 to 8	1 male and 1 female	n.a.	PBL	45,der(15;15)(q10;q10)	Angelman syndrome	{308} cases V28 and V89
	15- WpU- bal/ 4-1	n.a.	postnatal	PBL	45,XX,t(6;15)(p25.3;q11.1)	Angelman syndrome	{412} 1 case
	15- WpU- bal/ 5-1	male	29y	PBL	45,XY,t(8;15)(p23.3;q11)pat	Angelman syndrome	{413} 1 case

 

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 References

pat UPD cases with clinical findings or unclear correlation and sSMC

 

	case no.	case no. in sSMC database	gender/ age at diagnosis	studied  material	GTG-banding result grade of mosaicism	final FISH result of the sSMC	FISH methods	UPD result	clinical symptoms	reference
	15- WpU- sSMC/ 1-1	15-A- q11/ 1-1	male / 4y	PBL	47,XY,+inv dup(15)(q11)[60%]/ 46,XY[40%]	n.a.	n.a.	pat UPD 15	Angelman syndrome	{23} case 1 {308}
	15- WpU- sSMC/ 2-1	15-A- q11/ 1-2	male/ 18m	PBL	47,XY,+mar[50]	inv dup(15)(q11)	FISH with D15S63; cen15	pat UPD 15	Angelman syndrome	{62; 63}
	15- WpU- sSMC/ 3-1	15-A- q11.2/ 1-1	male/ prenatal	AF	culture 1: 47,XY,+mar[100] culture 2: mar only in 32%	inv dup(15)(q11.2)	cenM; subcenM; UBE3A	pat UPD 15	Angelman syndrome	{0}case provided by Dr. Thiel, Berlin, Germany

 

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 References

pat UPD cases with clinical findings or unclear correlation and other imbalances

 

NO REPORTS YET

 

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 References

pat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET

 

 

	case no.	gender	age at diagnosis	studied  material	GTG-banding result grade of mosaicism	clinical symptoms	reference
	15- WpU- N/1-1 to 2	female	childhood	PBL	46,XX	AS	{113}2 cases; {308}
	15- WpU- N/1-3 to 5	n.a.	childhood	PBL	n.a.	AS	{131} 3 cases; {308}
	15- WpU- N/1-6	female	6y	PBL	n.a.	AS	{145} patient 2
	15- WpU- N/1-7	male	18y	PBL	n.a.	AS; autism, severe MR	{150} patient 4
	15- WpU- N/1-8 to 12	male and female	childhood	PBL	n.a.	AS	{185} cases 9-13
	15- WpU- N/1-13	female	8y	PBL	46,XX	AS	{194} case 32
	15- WpU- N/1-14	female	childhood	PBL	n.a.	AS	{185} cases 9-13
	15- WpU- N/1-15	female	6y	PBL	46,XX	AS	{197}
	15- WpU- N/1-16 to 17	female and male	6m and 6y	PBL	46,XX and 46,XY	AS	{253}  cases W1 and D1
	15- WpU- N/1-18 to 19	n.a.	n.a.	n.a.	n.a.	AS	{273}  2 cases
	15- WpU- N/1-20	n.a.	postnatal	n.a.	n.a.	AS	{278}
	15- WpU- N/1-21	n.a.	postnatal	n.a.	46,XN	AS	{281} 1 case
	15- WpU- N/1-22	female	10y	PBL	46,XX	AS	{294}
	15- WpU- N/1-23 to 29	male and female	postnatal	PBL	46,XN	AS	{302} 7 cases
	15- WpU- N/1-30 to 44	8male and 9 female	postnatal	PBL	46,XN, 2x n.a.	AS	{308} 14 cases; {566} 4 cases
	15- WpU- N/1-45	n.a.	postnatal	PBL	n.a.	AS	{514} 1 case
	15- WpU- N/1-46	male	41m	PBL	46,XX	AS	{192}
	15- WpU- N/1-47 to 49	n.a.	postnatal	PBL	46,XN	AS	{314} 3 cases
	15- WpU- N/1-50 to 53	n.a.	postnatal	PBL	46,XN	AS	{359} 4 cases
	15- WpU- N/1-54  to 55	male and female	postnatal	PBL	46,XN	AS	{393} 2 cases
	15- WpU- N/1-56  to 62	male and female	n.a.	n.a.	n.a.	AS	{475} 7 cases
	15- WpU- N/1-63 to 65	1x male, 2x female	postnatal	PBL	46,XN	AS	{528} cases 28-30
	15- WpU- N1-66	female	postnatal	PBL	46,XX	AS	{530}
	15- WpU- N/1-67	male	prenatal	AF	46,XY (chr. 15p with identical pat. heteromorphism)	AS	{593}
	15- WpU- N/1-68  to 73	n.a.	postnatal	PBL	n.a.	AS	{595} 6 cases
	15- WpU- N/1-74	n.a.	postnatal	PBL	n.a.	AS	{349} 1 case
	15- WpU- N/1-75	n.a.	postnatal	PBL	n.a.	AS	{606} 1 case
	15- WpU- N/1-76	n.a.	4m	PBL	n.a.	AS (iso UPD 15)	{619}case 12
	15- WpU- N/1-77	n.a.	9y	PBL	n.a.	AS (iso UPD 15)	{619}case 14
	15- WpU- N/1-78 to 79	n.a.	postnatal	PBL	n.a.	AS	{627}2 cases
	15- WpU- N/1-80 to 113	n.a.	postnatal	PBL	n.a.	AS	{641}34 cases
	15- WpU- N/2-1	n.a.	postnatal	PBL	46,XN	n.a. in detail; clinically abnormal	{163} case 23