Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

Table 1 Detailed information of the 13 CTD patients with 22q11.2 deletion

NO.	Age*	Cardiac Defects	Karyotype	Size of	FISH		TBX1
	(m)	Primary Diagnosis		Deletion (MLPA)	N25	TUPLE1	Sequence
T36	21	TOF	46,XY	CLTCL1-LZTR1	Del	Del	H
1E	13	TOF	46,XX	CLTCL1-LZTR1	Del	Del	H
2F	19	TOF	46,XY	CLTCL1-LZTR1	Del	Del	H
33	24	TOF	46,XX	CLTCL1-LZTR1	Del	Del	H
18	8	PA/VSD	46,XY	CLTCL1-LZTR1	Del	Del	H
1C	4	PA/VSD	46,XX	CLTCL1-LZTR1	Del	Del	H
32	23	PA/VSD	46,XY	CLTCL1-LZTR1	Del	Del	H
1I	15	PA/VSD	46,XY	CLTCL1-LZTR1	Del	Del	H
2D	23	PA/VSD	46,XX	CLTCL1-LZTR1	Del	Del	H
5	9	PA/VSD	46,XY	CLTCL1-LZTR1	Del	Del	H
10D	120	PA/VSD	46,XY	CDC45L-LZTR1	N	N	H
D2	21	DORV	46,XY	CLTCL1-LZTR1	Del	Del	H
13	8	PTA(A1)	46,XX	CLTCL1-DGCR8	Del	Del	H

Abbreviations: * age in months at the time of examination; m = months; Del = deletion; N = normal; H = haploid

ISSN: 1471-2350