TL

ChromosOmics - Database

- CHROMOSOME 15 -
- maternal UPD -

UPD unclear if maternal or paternal CHR . 15	UPD PATERNAL CHR . 15
UPD-cases without clinical findings + normal karyotype	UPD-cases with or unclear clinical correlation + normal karyotype
UPD-cases without clinical findings + balanced karyotype	UPD-cases with or unclear clinical correlation + balanced karotype
UPD-cases without clinical findings + sSMC	UPD-cases with or unclear clinical correlation + sSMC
segmental UPD-cases without clinical findings	segmental UPD-cases with or unclear clinical correlation
UPD-cases without clinical findings + other imbalances	UPD-cases with or unclear clinical correlation + other imbalances
References

mat UPD-cases without clinical findings + normal karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OmU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OmU-N/ mos/ 1-1	-	-	-	-	-	-

mat UPD-cases without clinical findings + balanced karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OmU-bal/ 1-1	-	-	-	-	-	-

mat UPD-cases without clinical findings + sSMC

case no.	case no. in sSMC database	gender/ age at diagnosis	studied material	GTG-banding result	final FISH result of the sSMC	FISH methods	clinical symptoms	reference
15- OmU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental mat UPD-cases without clinical findings

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OmU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OmU-seg/ / mos/ 1-1	-	-	-	-	-	-

mat UPD-cases without clinical findings + other imbalances

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OmU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- OmU-imb/ mos/ 1-1	-	-	-	-	-	-

mat UPD-cases with or unclear clinical correlation + normal karyotype

In {1261} study on genetic subtype-phenotype analysis of growth hormone treatment on psychiatric behavior in Prader-Willi syndrome (PWS).
in {1322} a SNRPN gene mutation is suggested as reason for PWS

Prader-Willi-syndrome (PWS) can now be identified by help of facial diagnostic, supported by computer aid {1472}

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
15- WmU-N/ 1-1 to 1-7	n.a.	n.a.	PBL	46	PWS	{110, 367} overall 7 cases
15- WmU-N/ 1-8 to 1-24	male and female	n.a.	PBL	46	PWS	{126} 17 cases
15- WmU-N/ 1-25 to 1-32	male and female	n.a.	PBL	n.a.	PWS	{185} cases 1-8
15- WmU-N/ 1-33 to 1-44	male and female	n.a.	PBL	n.a.	PWS	{242} 12 cases
15- WmU-N/ 1-45	male	prenatal	AF	46,XY	PWS; TOP	{247}
15- WmU-N/ 1-46	male	6y	PBL	46,XY	PWS	{248} case 2
15- WmU-N/ 1-47	male	prenatal	AF, CH	46,XY	PWS	{251} case 1
15- WmU-N/ 1-48 to 1-59	male and female	postnatal	PBL	n.a.	PWS	{258} 18 cases; PW 25 and PW 27 published also in {523}
15- WmU-N/ 1-60	female	1y	PBL	46,XX	PWS	{272} case 1
15- WmU-N/ 1-61 to 1-70	n.a.	n.a.	n.a.	n.a.	PWS	{273} 10 cases
15- WmU-N/ 1-71 to 1-78	5 male and 3 female	postnatal	PBL	n.a.	PWS	{274} 8 cases, possibly included in -cases 15-WmU-N/390 to 1-423
15- WmU-N/ 1-79	male	postnatal	PBL	46,XY	PWS	{277} case 2
15- WmU-N/ 1-80 to 1-85	n.a.	postnatal	PBL	46,XN	PWS	{281} 6 cases
15- WmU-N/ 1-86 to 1-114	male and female	postnatal	PBL	46,XN	PWS	{303} 29 cases
15- WmU-N/ 1-115 to 1-118	n.a.	postnatal	PBL	46,XN	PWS	{305} 4 cases
15- WmU-N/ 1-116 to 1-129	n.a.	postnatal	PBL	46,XN	PWS	{309} 14 cases
15- WmU-N/ 1-130 to 1-133	2 male and 2 female	postnatal	PBL	46,XN	PWS	{310} 4 cases
15- WmU-N/ 1-134 to 1-135	n.a.	postnatal	PBL	46,XN	PWS	{316} 2 cases
15- WmU-N/ 1-136	n.a.	postnatal	PBL	n.a.	PWS	{348} family 2
15- WmU-N/ 1-137 to 1-139	n.a.	postnatal	PBL	n.a.	PWS	{124} 3 cases
15- WmU-N/ 1-140 to 1-144	n.a.	postnatal	PBL	n.a.	PWS	{356} 5 cases
15- WmU-N/ 1-145 to 1-168	n.a.	postnatal	PBL	n.a.	PWS	{363} 24 cases
15- WmU-N/ 1-169	female	3y	PBL	46,XX	PWS	{112}
15- WmU-N/ 1-170	male	1y	PBL	46,XY	PWS	{193} case 33, {194}
15- WmU-N/ 1-171 to 1-174	n.a.	adult	PBL	n.a.	PWS	{376} 4 cases
15- WmU-N/ 1-175 to 1-177	n.a.	postnatal	PBL	46,XN	PWS	{392} 3 cases
15- WmU-N/ 1-178 to 1-180	female	postnatal	PBL	46,XX	PWS	{414} 3 cases
15- WmU-N/ 1-181	n.a.	n.a.	n.a.	n.a.	PWS	{460}
15- WmU-N/ 1-182 to 1-206	n.a.	n.a.	n.a.	n.a.	PWS	{475}
15- WmU-N/ 1-207	male	postnatal	PBL	n.a.	PWS	{523} 1 case
15- WmU-N/ 1-208 to 1-209	n.a.	postnatal	PBL	n.a.	PWS	{524} 4 cases
15- WmU-N/ 1-210 to 1-362	n.a.	postnatal	PBL	n.a.	PWS	{531-533; 566} 152 cases
15- WmU-N/ 1-363 to 1-378	n.a.	postnatal	PBL	n.a.	PWS	{535} 16 cases
15- WmU-N/ 1-379 to 1-387	n.a.	postnatal	PBL	n.a.	PWS	{536} 9 cases
15- WmU-N/ 1-388	n.a.	3.5y	PBL	n.a.	PWS	{0} case provided by Dr. H-G Klein/ Martinsried, Germany
15- WmU-N/ 1-389	n.a.	postnatal	PBL	46,XN	PWS	{0} case provided by Dr. A Polityko, Minsk, Belarus
15- WmU-N/ 1-390 to 1-423	n.a.	postnatal	PBL	46,XN	PWS	{550} 34 cases; most likely 15 cases from Ref {628; 918, 1176} included here
15- WmU-N/ 1-423 to 1-443	n.a.	postnatal	PBL	46,XN	PWS	{551; 552; 765} 20 cases
15- WmU-N/ 1-444 to 1-487	n.a.	postnatal	PBL	46,XN	PWS	{561; 562; 620} 44 cases
15- WmU-N/ 1-488	female	4y	PBL	n.a.	PWS	{585}
15- WmU-N/ 1-489 to 1-507	female	postnatal	PBL	n.a.	PWS	{586} 19 female cases
15- WmU-N/ 1-508 to 1-522	male	4y	PBL	n.a.	PWS	{586} 15 male cases
15- WmU-N/ 1-523	n.a.	postnatal	PBL	n.a.	PWS	{587}
15- WmU-N/ 1-524 to 1-525	n.a.	postnatal	PBL	n.a.	PWS	{588} 2 cases
15- WmU-N/ 1-526 to 1-531	n.a.	postnatal	PBL	n.a.	PWS	{589} 6 cases
15- WmU-N/ 1-532 to 1-580	26 male, 23 female	postnatal	PBL	n.a.	PWS	{590} 32 partially overlapping cases with 49 cases from {599} - overall 49 cases counted
15- WmU-N/ 1-581 to 1-598	n.a.	postnatal	PBL	n.a.	PWS	{591; 592} 18 cases
15- WmU-N/ 1-599 to 1-602	3 male, 1 female	postnatal	PBL	n.a.	PWS	{594} 4 cases
15- WmU-N/ 1-603	n.a.	postnatal	PBL	n.a.	PWS	{348; 597} fam F1
15- WmU-N/ 1-604	n.a.	postnatal	PBL	n.a.	PWS	{349, 597} 1 case
15- WmU-N/ 1-605 to 1-610	n.a.	postnatal	PBL	n.a.	PWS	{598} 6 cases
15-WmU-N/ 1-611 to 1-630	n.a.	postnatal	PBL	n.a.	PWS	{600} 19 cases
15- WmU-N/ 1-631 to 1-636	n.a.	postnatal	PBL	n.a.	PWS	{607} 6 cases
15- WmU-N/ 1-637 to 1-680	n.a.	postnatal	PBL	n.a.	PWS	{615} 44 cases
15- WmU-N/ 1-681 to 1-685	4 male, 1 female	postnatal	PBL	n.a.	PWS	{618} 5 cases
15- WmU-N/ 1-686	n.a.	9y	PBL	n.a.	PWS (iso-UPD 15)	{619} case 13
15- WmU-N/ 1-687 to 1-694	n.a.	prenatal to 15y	PBL	n.a.	PWS	{619} cases 26-32
15- WmU-N/ 1-695 to 1-699	n.a.	postnatal	PBL	n.a.	PWS - 5/7 cases being ART and having PWS	{626} 5 cases possibly included in -cases 15-WmU-N/390 to 1-423 {637}
15- WmU-N/ 1-700 to 1-704	n.a.	postnatal	PBL	n.a.	PWS	{627} 5 cases
15- WmU-N/ 1-705	n.a.	postnatal	PBL	n.a.	PWS	{641} 1 case
15- WmU-N/ 1-706 to 1-730	n.a.	postnatal	PBL	n.a.	PWS	{642} 25 cases
15- WmU-N/ 1-731	female	postnatal	PBL	n.a.	PWS	{644}
15- WmU-N/ 1-732 to 1-764	female and male	postnatal	PBL	n.a.	PWS	{653}
15- WmU-N/ 1-765 to 1-771	female and male	postnatal	PBL	n.a.	PWS	{657}
15- WmU-N/ 1-772	n.a.	postnatal	PBL	n.a.	PWS	{660} 1 case - other 7 cases see {110}
15- WmU-N/ 1-773 to 1-778	n.a.	postnatal	PBL	n.a.	PWS	{667}
15- WmU-N/ 1-779 to 1-797	n.a.	postnatal	PBL	n.a.	PWS	{669} 19 cases
15- WmU-N/ 1-797 to 1-805	n.a.	postnatal	PBL	n.a.	PWS	{668} 8 cases
15- WmU-N/ 1-806 to 1-827	n.a.	postnatal	PBL	n.a.	PWS	{685} 21 cases
15- WmU-N/ 1-828 to 1-831	n.a.	postnatal	PBL	n.a.	PWS	{687} 4 cases
15- WmU-N/ 1-832 to 1-839	6 female/ 2 male	postnatal	PBL	46,XN	PWS	{697} 8 cases
15- WmU-N/ 1-840	n.a.	postnatal	PBL	n.a.	PWS	705}
15- WmU-N/ 1-841	n.a.	postnatal	PBL	n.a.	PWS	{706; 776; 921}
15- WmU-N/ 1-842	n.a.	postnatal	PBL	n.a.	PWS	{727}
15- WmU-N/ 1-843 to 1-854	3 male/ 8 female	postnatal	PBL	n.a.	PWS	{735} 11 cases
15- WmU-N/ 1-855 to 1-864	n.a.	postnatal	PBL	n.a.	PWS	{739} 10 cases
15- WmU-N/ 1-865 to 1-870	n.a.	postnatal	PBL	n.a.	PWS	{744} 6 cases
15- WmU-N/ 1-871 to 1-873	n.a.	postnatal	PBL	46,XN	PWS (iUPD)	{745 and 746}
15- WmU-N/ 1-874 to 1-878	n.a.	postnatal	PBL	n.a.	PWS	{753} 5 cases
15- WmU-N/ 1-879	female	postnatal	PBL	46,XX (heteromorphism on one chr. 15)	PWS	{347} case 1
15- WmU-N/ 1-880 to 1-893	n.a.	postnatal	PBL	n.a.	PWS	{765} 14 cases
15- WmU-N/ 1-894	n.a.	postnatal	PBL	n.a.	PWS	{768}
15- WmU-N/ 1-895 to 1-903	n.a.	postnatal	PBL	n.a.	PWS	{771} 9 cases
15- WmU- N/1-904 to 1-909	n.a.	postnatal	PBL	n.a.	PWS	{776} 8 cases
15- WmU-N/ 1-910 to 1-937	n.a.	postnatal	PBL	n.a.	PWS	{783} 27 cases
15- WmU-N/ 1-938 to 1-950	n.a.	postnatal	PBL	n.a.	PWS	{814} 13 cases
15- WmU-N/ 1-951 to 1-962	n.a.	postnatal	PBL	n.a.	PWS	{825} 12 cases
15- WmU-N/ 1-963 to 1-970	male	postnatal	PBL	n.a.	PWS	{836} 8 cases
15- WmU-N/ 1-971 to 1-975	female	postnatal	PBL	n.a.	PWS	{836} 5 cases
15- WmU-N/ 1-976 to 1-981	n.a.	postnatal	PBL	n.a.	PWS	{828} 6 cases
15- WmU-N/ 1-982 to 1-998	n.a.	postnatal	PBL	n.a.	PWS	{845} 17 cases
15- WmU-N/ 1-999 to 1-1022	n.a.	postnatal	PBL	n.a.	PWS	{860} 24 cases
15- WmU-N/ 1-1023 to 1-1046	n.a.	postnatal	PBL	n.a.	PWS	{863} 22 cases
15- WmU-N/ 1-1047	n.a.	prenatal	NIPT	n.a.	PWS	{880} case 2
15- WmU-N/ 1-1048	n.a.	postnatal	PBL	46,XN	PWS	{910} 1 case
15- WmU-N/ 1-1049 to 1-1069	n.a.	postnatal	PBL	n.a.	PWS	{918, 1176} 21 cases
15- WmU-N/ 1070 to 1-1112	n.a.	postnatal	PBL	n.a.	PWS	{921} 43 cases
15- WmU-N/ 1-1113 to 1-1135	n.a.	postnatal	PBL	n.a.	PWS	{930} 23 cases
15- WmU-N/ 1-1136 to 1-1137	female	postnatal	PBL	n.a.	PWS	{934} 2 cases
15- WmU-N/ 1-1138	female	4y	PBL	n.a.	PWS	{936}
15- WmU-N/ 1-1139	male	4y	PBL	n.a.	PWS	{945}
15- WmU-N/ 1-1140 to 1-1165	male and female	children and adult	PBL	n.a.	PWS	{979} 26 cases
15- WmU-N/ 1-1166 to 1-1255	male and female	children and adult	PBL	n.a.	PWS	{986} 89 cases
15- WmU-N/ 1-1256 to 1-1267	male and female	children	PBL	n.a	PWS	{1004} 13 cases
WmU-N/ 1-1268 to 1-1275	male and female	children	PBL	n.a.	PWS	{1006} 8 cases
15- WmU-N/ 1-1276 to 1-1280	male and female	children	PBL	n.a.	PWS	{1008} 5 cases
15- WmU-N/ 1-1281	n.a.	postnatal	PBL	n.a.	PWS	{1010} 1 case
15- WmU-N/ 1-1282 to 1-1356	male and female	postnatal	PBL	n.a.	PWS	{1015} 55 cases
15- WmU-N/ 1-1357 to 1-1386	male and female	postnatal	PBL	n.a.	PWS	{1018} 29 cases
15- WmU-N/ 1-1387 to 1-1388	n.a.	postnatal	PBL	n.a.	PWS	{1019} 2 cases
15- WmU-N/ 1-1389	female	9m	PBL	46,XX	PWS	{1020}
15- WmU-N/ 1-1390 to 1-1400	male and female	postnatal	PBL	n.a.	PWS	{1040} 11 cases
15- WmU-N/ 1-1401 to 1-1419	male and female	postnatal	PBL	n.a.	PWS	{1051} 19 cases
15- WmU-N/ 1-1420 to 1-1427	n.a.	postnatal	PBL	n.a.	PWS	{1060} 8 cases
15- WmU-N/ 1-1428	n.a.	2y	PBL	n.a.	PWS	{1080} p4
15- WmU-N/ 1-1429 to 1-1480	male	postnatal	PBL from Rare Diseases Clinical Research Network (RDCRN) PWS registry	n.a.	PWS	{1092} 52 cases - most likely same cases in {1094/1095}
15- WmU-N/ 1-1481 to 1-1555	female	postnatal	PBL from Rare Diseases Clinical Research Network (RDCRN) PWS registry	n.a.	PWS	{1092} 75 cases - most likely same cases in {1094/1095}
15- WmU-N/ 1-1556 to 1-1582	n.a.	postnatal	PBL	n.a.	PWS	{1139} 27 cases
15- WmU-N/ 1-1583	male	newborn	PBL	46,XY	PWS	{1141}
15- WmU-N/ 1-1584	n.a.	postnatal	PBL	n.a.	PWS	{1151}
15- WmU-N/ 1-1585 to 1-1589	n.a.	postnatal	PBL	n.a.	PWS	{1167} 5 cases
15- WmU-N/ 1-1590	n.a.	postnatal	PBL	n.a.	PWS	{1173} 1 case
15- WmU-N/ 1-1591	n.a.	postnatal	PBL	n.a.	PWS	{1326} 1 case
15- WmU-N/ 1-1592 to 1-1600	n.a.	postnatal	PBL	n.a.	PWS	{1197} 9 cases
15- WmU-N/ 1-1601 to 1-1623	n.a.	postnatal	PBL	n.a.	PWS	{1198} 23 cases
15- WmU-N/ 1-1624	n.a.	postnatal	PBL	n.a.	PWS	{1203} 1 case
15- WmU-N/ 1-1625 to 1-1631	n.a.	postnatal	PBL	n.a.	PWS	{1208} 7 cases
15- WmU-N/ 1-1632	n.a.	prenatal	AF	n.a.	PWS	{1211} 1 case
15- WmU-N/ 1-1633	n.a.	postnatal	PBL	n.a.	PWS Severe ID, speech delay, myopia, scoliosis (iUPD)	{1213} case V6
15- WmU-N/ 1-1634 to 1-1640	n.a.	postnatal	PBL	n.a.	PWS	{1223} 7 cases
15- WmU-N/ 1-1641	n.a.	postnatal	PBL	n.a.	PWS	{1245}
15- WmU-N/ 1-1642 to 1-1698	n.a.	postnatal	PBL	n.a.	PWS	{1261} 57 cases
15- WmU-N/ 1-1699	n.a.	prenatal	free placenta DNA	n.a.	PWS	{1264}
15- WmU-N/ 1-1700 to 1702	n.a.	postnatal	PBL	n.a.	PWS phenotype like SRS in 2/3 cases	{1266} 3 cases
15- WmU-N/ 1-1703 to 1713	n.a.	postnatal	PBL	n.a.	PWS	{1268} 11 cases
15- WmU-N/ 1-1714 to 1715	male and female	prenatal	PBL	46,XY 46,XX	PWS	{1289} cases 5 & 6
15- WmU-N/ 1-1716 to 1721	n.a.	postnatal	PBL	n.a.	PWS	{1296} 6 cases
15- WmU-N/ 1-1722 to 1738	n.a.	postnatal	PBL	n.a.	PWS	{1299} 16 cases
15- WmU-N/ 1-1739 to 1748	n.a.	postnatal	PBL	n.a.	PWS	{1316} 10 cases
15- WmU-N/ 1-1749 to 1750	n.a.	postnatal	PBL	46,XN	PWS	{1327} 2 cases
15- WmU-N/ 1-1751 to 1770	n.a.	postnatal	PBL	n.a.	PWS	{1331} 19 cases
15- WmU-N/ 1-1771 to 1783	n.a.	postnatal	PBL	n.a.	PWS	{1336} 13 cases
15- WmU-N/ 1-1784 to 1789	n.a.	postnatal	PBL	n.a.	PWS	{1337} 6 cases
15- WmU-N/ 1-1790 to 1791	male	postnatal	PBL	46,XY	PWS	{1354} cases p14, p21
15- WmU-N/ 1-1792 to 1793	n.a.	postnatal	PBL	n.a.	PWS	{1340} cases P12, P13
15- WmU-N/ 1-1794 to 1812	n.a.	postnatal	PBL	46,XN	PWS	{1378} 19 cases
15- WmU-N/ 1-1813 to 1814	n.a.	prenatal	AF	n.a.	PWS	{1404} 2 cases
15- WmU-N/ 1-1815	n.a.	postnatal	PBL	n.a.	PWS	{1408} 1 case
15- WmU-N/ 1-1816 to 1-1861	n.a.	postnatal	PBL	n.a.	PWS	{1421} 46 cases
15- WmU-N/ 1-1862 to 1-1880	n.a.	postnatal	PBL	n.a.	PWS	{1437} 19 cases
15- WmU-N/ 1-1881	female	1m	PBL	n.a.	PWS	{1448} case 4
15- WmU-N/ 1-1882	n.a.	postnatal	PBL	n.a.	PWS	{1461} 1 case
15- WmU-N/ 1-1883 to 1-1886	n.a.	postnatal	PBL	n.a.	PWS	{1462} 4 cases
15- WmU-N/ 1-1887 to 1-1942	n.a.	postnatal	PBL	n.a.	PWS	{1468} 56 cases
15- WmU-N/ 1-1943	n.a.