8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Barber, John CK; Bunyan, Dave; Curtis, Merryl; Robinson, Denise; Morlot, Susanne; Dermitzel, Anette; Liehr, Thomas; Alves, Claudia; Trindade, Joana; Paramos, Ana I; Cooper, Clare; Ocraft, Kevin; Taylor, Emma-Jane; Maloney, Viv K

doi:10.1186/1755-8166-3-3

Molecular Cytogenetics

Table 1 MLPA and BAC FISH results in Cases 1 to 4:

From: 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Band	BAC/*MLPA**	Mb from telomere (hg 18 Build 36)	Case 1 Proband	Case 2 Proband	Case 3 Proband, sister and father	Case 4 Proband and mother
8p23.3	RP11-410N18	1,980,652-2,132,993	-	Normal	-	-
8p23.2	RP11-159F11	2,215,497-2,435,332	-	Normal	-	-
8p23.2	CSMD1 (4 probes)*	2,780,282-4,839,736	Normal	-	-	Normal
8p23.1	CTD-2629I16	6,684,740-6,685,317	-	Normal	Normal	-
8p23.1	ANGPT2*	6,347,22 -6,408,174	Normal	-	-	Normal
8p23.1	DEFB1 (2 probes)*	6,715,511-6,722,939	Normal	-	-	Normal
8p23.1	DEFA6 (2 probes)*	6,769,631-6,771,008	Normal	-	-	Normal
8p23.1	DEFA4 (2 probes)*	6,780,755-6,783,196	Normal	-	-	Normal
8p23.1	DEFA5*	6,900,239-6,901,669	Normal	-	-	Normal
REPD	RP11-594D21	7,105,087-7,258,467	-	Normal	-	-
REPD	RP11-122N11	7,295,548-7,305,838	-	_	dup	-
REPD	RP11-1118M6	7,286,844-7,462,059	-	dup	_	-
REPD	RP11-774P7	7,318,738-7,396,455	-	Normal	_	-
REPD	DEFB4 etc (10 probes)*	7,789,609-7,791,647 Complex	Normal	_	_	trp
8p23.1	RP11-211C9	8,504,285-8,677,721	_	dup	dup	-
8p23.1	MFHAS1 (MASL1)*	8,679,409-8,788,541	dup	_	_	Normal
8p23.1	PPP1R3B*	9,031,186-9,045,630	dup	_	_	Normal
8p23.1	TNKS*	9,450,855-9,677,266	dup	_	_	Normal
8p23.1	MSRA*	9,949,189-10,323,803	dup	_	_	Normal
8p23.1	BLK*	11,388,930-11,459,516	dup	_	_	Normal
8p23.1	GATA4*	11,599,162-11,654,918	dup	_	_	Normal
8p23.1	RP11-589N15	11,627,380-11,803,128	-	dup	dup	-
REPP	RP11-351I21	12,233,365-12,434,472	-	dup	_	-
REPP	RP11-24D9	12,433,487-12,590,982	-	-	dup	-
8p22	RP11-433L7	14,278,096-14,461,154	-	-	Normal	-
8p22	MSR1*	16,009,758-16,094,671	Normal	-	-	Normal
8p21.3	CGAT1*	19,305,952-19,584,374	Normal	-	-	Normal

Letters in bold highlight the G-dark bands, REPD and REPP and the results with a change in copy number.
Dashes indicate probes "not tested" and longer dashes (in bold) those "not tested" but expected to show copy number change based on the other results.
BAC names are given without italics and the genes targeted by MLPA probes in italics.

Back to article page

ISSN: 1755-8166

Contact us

General enquiries: journalsubmissions@springernature.com