A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

Fernández, Luis; Nevado, Julián; Santos, Fernando; Heine-Suñer, Damià; Martinez-Glez, Victor; García-Miñaur, Sixto; Palomo, Rebeca; Delicado, Alicia; Pajares, Isidora López; Palomares, María; García-Guereta, Luis; Valverde, Eva; Hawkins, Federico; Lapunzina, Pablo

doi:10.1186/1471-2350-10-48

BMC Medical Genetics

Table 1 Alleles of STR markers studied in Patient 1 and father and Patient 2 and relatives.

From: A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

	Position	Patient 1	Father 1	Patient 2	Mother 2	Father 2	Maternal aunt 2a	Maternal aunt 2b	Maternal uncle 2	Maternal grandfather 2
CATCH 10	191,164,96	120 122	NA	120 122	122	120 122	122	122	122	122
CATCH 20	19,245,111	160	160	NA	160	160 162	160	160	160	160
PCQAP*	19,266,745	N	N	N	N	N	N	N	N	N
LCR-C**	19,354,000–19,417,000
CATCH 42	19,449,222	99	93 99	93 97 101	93 99 101	97 99	93 99 101	93 99 101	93 99 101	93 101
CATCH 41	19,450,208	NA	169 173	169 173	169 173	173 177	169 173	169 173	169 173	169 173
CATCH 11	19,469,542	197	195 197	195 199	191 195 199	195 199	191 195 199	191 195 199	191 195 199	195 199
D22S311	19,503,575	251	249 255	251 253	249 253	251	249 253	249 253	249 253	249 253
CATCH 12	19,566,292	116	116	116	116	116	116	116	116	116
CATCH 13	19,567,154	143	138 143	138 143	138 143	143	138 143	138 143	138 143	138 143
SNAP29*	19,572,014	del	N	dup	dup	N	dup	dup	dup	dup
CATCH 14	19,595,454	212	212 215	200 216 227	208 216 227	200 210	208 216 227	208 216 227	208 216 227	216 220 227
CATCH 39	19,640,114	106	106 110	94 102 110	94 102 106	106 110	94 102 106	94 102 106	94 102 106	94 102
LZTR1*	19,679,191	del	N	dup	dup	N	dup	dup	dup	dup
D22S1709	19,735,440	120	128	126 128 132	126 128 132	128 132	126 128 132	126 128 132	126 128 132	126 132
CATCH 38	19,745,025	157	159	159	159	155 159	159	159	159	159 163
CATCH 37	19,759,833	NA	226 234	230 245	230 245	230 245	230 245	230 245	230 245	230 245
LCR-D**	19,777,000
LCRD 06317-L10754*	19,779,435	del	N	dup	dup	N	dup	dup	dup	dup
CATCH 36	20,126,412	109	109	109	109	109	109	109	109	109
HIC2*	20,130,631	del	N	N	N	N	N	N	N	N
LCR-D**	20,242,000
LCRD 06321-L05796*	20,247,101	del	N	N	N	N	N	N	N	N
CATCH 35	20,341,833	136	136 150	136 150	136 143	143 150	136 143	136 143	136 143	136 143
D22S446bis	20,343,665	157	157 185	157 180	157 161	165 180	157 161	157 161	157 161	157 161
PPIL2*	20,379,687	N	N	N	N	N	N	N	N	N
D22S306	20,887,523	106	106	NA	NA	NA	106	106	106	106
D22S303	21,599,366	212 222	212 222	NA	NA	NA	212 222	212 222	212 222	212

Alleles are expressed in fragment bp. STR markers are located according to the NCBI Build 36.1, together with the MLPA probes (*) and the LCRs (**). The shortest informative deletion and duplication segments by MLPA and STRs are D22S311-LCRD 06321-L05796 and CATCH 42-LCRD 06317-L10754, respectively. Bold text indicates haploinsufficiency or trisomy, two alleles listed in bold mean that homozygosity is suspected in one of them, so there are really three alleles. Regular text indicates biallelism. Italic indicates non informative results. del: deletion; dup: duplication; N: normal; NA: not available.

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ISSN: 1471-2350

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