A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

Dmitry Tentler; Peter Gustavsson; Göran Elinder; Ole Eklöf; Laurie Gordon; Ariane Mandel; Niklas Dahl

doi:10.1136/jmg.37.2.128

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Short report

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

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Online download statistics by month: February 2000 to September 2024

	Abstract	Full	Pdf
Feb 2000	10	50	17
Mar 2000	4	30	10
Apr 2000	1	8	1
May 2000	1	4	0
Jun 2000	1	8	3
Jul 2000	1	7	6
Aug 2000	3	1	0
Sep 2000	1	3	0
Oct 2000	2	10	3
Nov 2000	0	13	4
Dec 2000	0	1	0
Jan 2001	0	2	0
Feb 2001	0	15	4
Mar 2001	0	7	0
Apr 2001	2	4	1
May 2001	1	5	0
Jun 2001	0	1	0
Jul 2001	0	3	1
Aug 2001	0	5	2
Sep 2001	0	6	1
Oct 2001	0	4	0
Nov 2001	1	8	4
Dec 2001	1	6	2
Jan 2002	0	4	2
Feb 2002	3	9	7
Mar 2002	0	8	2
Apr 2002	0	8	2
May 2002	1	3	2
Jun 2002	0	3	2
Jul 2002	1	6	2
Aug 2002	0	5	2
Sep 2002	0	10	3
Oct 2002	3	5	1
Nov 2002	1	6	0
Dec 2002	0	4	5
Jan 2003	0	2	1
Feb 2003	0	8	0
Mar 2003	0	1	0
Apr 2003	0	7	2
May 2003	2	4	2
Jun 2003	0	7	3
Jul 2003	7	23	2
Aug 2003	9	9	3
Sep 2003	5	8	1
Oct 2003	12	12	3
Nov 2003	12	10	1
Dec 2003	8	16	6
Jan 2004	16	46	7
Feb 2004	5	4	0
Mar 2004	13	15	4
Apr 2004	11	17	5
May 2004	35	45	4
Jun 2004	40	42	3
Jul 2004	40	50	1
Aug 2004	29	37	7
Sep 2004	27	36	8
Oct 2004	10	23	3
Nov 2004	10	22	6
Dec 2004	11	21	3
Jan 2005	22	20	6
Feb 2005	12	34	5
Mar 2005	15	20	5
Apr 2005	1	8	3
May 2005	3	13	7
Jun 2005	1	8	3
Jul 2005	5	17	5
Aug 2005	2	7	9
Sep 2005	2	12	8
Oct 2005	1	9	6
Nov 2005	4	11	4
Dec 2005	2	13	3
Jan 2006	1	10	1
Feb 2006	1	14	4
Mar 2006	1	11	7
Apr 2006	5	4	5
May 2006	8	5	4
Jun 2006	4	13	9
Jul 2006	0	9	2
Aug 2006	2	4	1
Sep 2006	3	5	3
Oct 2006	1	10	5
Nov 2006	1	19	11
Dec 2006	0	9	4
Jan 2007	0	16	9
Feb 2007	3	13	8
Mar 2007	1	14	8
Apr 2007	3	4	2
May 2007	11	4	4
Jun 2007	10	6	4
Jul 2007	3	7	6
Aug 2007	8	3	1
Sep 2007	12	7	4
Oct 2007	12	5	5
Nov 2007	7	4	5
Dec 2007	5	4	6
Jan 2008	5	12	8
Feb 2008	6	10	9
Mar 2008	5	9	6
Apr 2008	4	6	8
May 2008	6	9	3
Jun 2008	12	7	4
Jul 2008	4	5	2
Aug 2008	10	6	2
Sep 2008	14	7	5
Oct 2008	8	9	1
Nov 2008	15	7	2
Dec 2008	5	1	0
Jan 2009	8	2	4
Feb 2009	6	3	2
Mar 2009	16	9	7
Apr 2009	13	3	5
May 2009	4	10	2
Jun 2009	8	5	0
Jul 2009	9	2	0
Aug 2009	5	5	6
Sep 2009	3	4	0
Oct 2009	14	9	4
Nov 2009	6	4	2
Dec 2009	6	2	3
Jan 2010	8	0	3
Feb 2010	4	7	2
Mar 2010	9	0	2
Apr 2010	5	3	2
May 2010	11	3	3
Jun 2010	19	4	4
Jul 2010	17	3	2
Aug 2010	8	5	1
Sep 2010	19	7	2
Oct 2010	17	7	0
Nov 2010	16	2	0
Dec 2010	28	2	1
Jan 2011	24	1	0
Feb 2011	34	10	4
Mar 2011	20	12	1
Apr 2011	38	7	1
May 2011	44	11	1
Jun 2011	18	6	1
Jul 2011	42	4	0
Aug 2011	44	4	2
Sep 2011	32	3	4
Oct 2011	36	7	3
Nov 2011	37	14	2
Dec 2011	6	34	5
Jan 2012	15	32	6
Feb 2012	3	23	2
Mar 2012	9	22	2
Apr 2012	12	43	5
May 2012	14	51	7
Jun 2012	6	37	2
Jul 2012	8	34	2
Aug 2012	10	40	7
Sep 2012	7	45	3
Oct 2012	18	55	5
Nov 2012	15	60	6
Dec 2012	17	28	5
Jan 2013	27	30	8
Feb 2013	12	38	8
Mar 2013	11	28	4
Apr 2013	15	30	6
May 2013	19	24	6
Jun 2013	9	18	0
Jul 2013	1	30	2
Aug 2013	4	22	2
Sep 2013	6	16	3
Oct 2013	2	8	3
Nov 2013	6	11	3
Dec 2013	4	20	2
Jan 2014	6	6	1
Feb 2014	3	11	1
Mar 2014	10	16	2
Apr 2014	10	32	4
May 2014	11	27	3
Jun 2014	4	33	1
Jul 2014	7	27	6
Aug 2014	4	22	9
Sep 2014	9	24	3
Oct 2014	13	23	3
Nov 2014	6	3	1
Dec 2014	1	8	1
Jan 2015	1	11	2
Feb 2015	4	12	6
Mar 2015	13	39	2
Apr 2015	6	29	1
May 2015	3	10	2
Jun 2015	2	12	2
Jul 2015	3	14	0
Aug 2015	4	20	4
Sep 2015	5	28	2
Oct 2015	4	21	1
Nov 2015	14	27	3
Dec 2015	4	12	1
Jan 2016	2	25	2
Feb 2016	11	31	5
Mar 2016	9	18	8
Apr 2016	9	23	9
May 2016	1	17	5
Jun 2016	2	18	2
Jul 2016	15	26	4
Aug 2016	9	19	1
Sep 2016	12	16	2
Oct 2016	14	31	4
Nov 2016	7	24	2
Dec 2016	8	19	2
Jan 2017	13	16	2
Feb 2017	2	13	1
Mar 2017	1	17	0
Apr 2017	0	20	0
May 2017	6	34	2
Jun 2017	6	19	2
Jul 2017	17	16	3
Aug 2017	21	21	2
Sep 2017	22	22	3
Oct 2017	22	20	0
Nov 2017	19	17	4
Dec 2017	22	22	2
Jan 2018	27	25	3
Feb 2018	33	25	2
Mar 2018	28	22	1
Apr 2018	41	37	2
May 2018	21	21	3
Jun 2018	40	39	2
Jul 2018	25	25	5
Aug 2018	34	28	2
Sep 2018	24	24	2
Oct 2018	44	40	9
Nov 2018	51	51	4
Dec 2018	61	61	3
Jan 2019	62	62	7
Feb 2019	47	47	7
Mar 2019	47	47	3
Apr 2019	23	23	10
May 2019	33	34	9
Jun 2019	21	19	6
Jul 2019	27	24	7
Aug 2019	21	21	6
Sep 2019	17	15	2
Oct 2019	33	33	5
Nov 2019	20	20	13
Dec 2019	27	28	4
Jan 2020	33	31	6
Feb 2020	19	13	4
Mar 2020	21	21	3
Apr 2020	17	17	2
May 2020	31	28	5
Jun 2020	19	18	3
Jul 2020	35	31	8
Aug 2020	31	28	7
Sep 2020	39	37	7
Oct 2020	40	39	5
Nov 2020	29	29	4
Dec 2020	34	34	4
Jan 2021	21	20	10
Feb 2021	23	23	4
Mar 2021	21	21	2
Apr 2021	12	12	3
May 2021	12	12	4
Jun 2021	16	16	3
Jul 2021	17	17	8
Aug 2021	22	23	10
Sep 2021	22	23	10
Oct 2021	19	20	22
Nov 2021	21	22	17
Dec 2021	21	21	3
Jan 2022	15	17	6
Feb 2022	20	15	2
Mar 2022	17	17	3
Apr 2022	16	17	1
May 2022	26	26	16
Jun 2022	25	25	5
Jul 2022	26	28	5
Aug 2022	35	30	5
Sep 2022	35	35	10
Oct 2022	30	29	8
Nov 2022	13	13	5
Dec 2022	8	8	1
Jan 2023	16	14	4
Feb 2023	28	31	5
Mar 2023	20	20	4
Apr 2023	11	11	3
May 2023	21	21	7
Jun 2023	9	9	3
Jul 2023	7	7	4
Aug 2023	12	10	2
Sep 2023	9	9	3
Oct 2023	31	32	6
Nov 2023	34	34	2
Dec 2023	133	9	0
Jan 2024	21	0	3
Feb 2024	69	1	1
Mar 2024	142	2	3
Apr 2024	61	4	0
May 2024	101	4	1
Jun 2024	35	0	0
Jul 2024	55	3	1
Aug 2024	71	2	0
Sep 2024	31	2	1
Total	4452	4939	1095

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