Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14)

Mattia Gentile; Antonia L Buonadonna; Filomena Cariola; Paola Fiorente; Maria C Valenzano; Ginevra Guanti

doi:10.1136/jmg.36.1.77

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Short report

Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14)

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	Abstract	Full	Pdf
Oct 1999	0	1	1
Nov 1999	0	2	0
Dec 1999	0	1	3
Jan 2000	2	5	1
Feb 2000	1	5	1
Mar 2000	1	4	10
Apr 2000	1	1	4
May 2000	1	3	3
Jun 2000	1	1	0
Jul 2000	1	1	1
Aug 2000	0	2	0
Sep 2000	1	2	1
Oct 2000	0	1	0
Nov 2000	0	3	1
Dec 2000	0	2	0
Jan 2001	0	2	1
Feb 2001	3	9	0
Mar 2001	2	9	2
Apr 2001	2	7	6
May 2001	0	3	0
Jun 2001	1	6	3
Jul 2001	0	3	1
Aug 2001	0	1	1
Sep 2001	1	0	1
Oct 2001	0	10	9
Dec 2001	0	3	1
Jan 2002	0	11	3
Feb 2002	1	5	5
Mar 2002	1	3	0
Apr 2002	1	4	4
May 2002	1	1	2
Jun 2002	1	6	3
Jul 2002	0	6	3
Aug 2002	0	1	1
Sep 2002	1	4	1
Oct 2002	0	4	2
Nov 2002	2	5	1
Dec 2002	1	1	2
Jan 2003	2	2	0
Feb 2003	0	5	1
Mar 2003	2	1	3
Apr 2003	0	1	1
May 2003	0	2	0
Jun 2003	1	7	0
Jul 2003	7	9	0
Aug 2003	11	7	0
Sep 2003	7	13	1
Oct 2003	13	10	1
Nov 2003	13	8	0
Dec 2003	16	18	5
Jan 2004	15	15	6
Feb 2004	11	19	2
Mar 2004	12	12	1
Apr 2004	18	12	3
May 2004	38	34	0
Jun 2004	39	49	13
Jul 2004	46	58	7
Aug 2004	43	41	7
Sep 2004	20	35	7
Oct 2004	11	26	6
Nov 2004	13	29	3
Dec 2004	10	32	13
Jan 2005	22	48	14
Feb 2005	9	42	3
Mar 2005	11	43	9
Apr 2005	6	65	9
May 2005	7	17	4
Jun 2005	5	44	10
Jul 2005	3	16	0
Aug 2005	3	11	8
Sep 2005	5	20	9
Oct 2005	3	19	16
Nov 2005	5	13	8
Dec 2005	5	22	2
Jan 2006	6	15	4
Feb 2006	4	24	13
Mar 2006	1	13	1
Apr 2006	2	13	5
May 2006	5	10	1
Jun 2006	3	16	5
Jul 2006	1	11	4
Aug 2006	0	7	1
Sep 2006	97	14	4
Oct 2006	439	24	8
Nov 2006	179	26	12
Dec 2006	3	15	9
Jan 2007	8	21	9
Feb 2007	1	17	6
Mar 2007	5	26	9
Apr 2007	17	5	3
May 2007	13	4	3
Jun 2007	10	3	2
Jul 2007	9	3	4
Aug 2007	8	3	1
Sep 2007	8	4	3
Oct 2007	9	12	9
Nov 2007	6	4	3
Dec 2007	8	6	7
Jan 2008	10	7	6
Feb 2008	6	2	3
Mar 2008	8	2	2
Apr 2008	8	3	3
May 2008	4	7	3
Jun 2008	3	1	1
Jul 2008	5	3	3
Aug 2008	4	2	1
Sep 2008	12	3	1
Oct 2008	7	1	0
Nov 2008	13	3	4
Dec 2008	2	3	1
Jan 2009	3	1	2
Feb 2009	4	2	2
Mar 2009	6	1	1
Apr 2009	7	2	0
May 2009	3	3	0
Jun 2009	6	0	0
Jul 2009	6	7	4
Aug 2009	8	4	2
Sep 2009	3	3	2
Oct 2009	8	3	3
Nov 2009	9	1	2
Dec 2009	11	4	2
Jan 2010	5	0	2
Feb 2010	4	0	1
Mar 2010	4	6	1
Apr 2010	7	1	3
May 2010	11	2	3
Jun 2010	8	1	3
Jul 2010	6	1	3
Aug 2010	10	1	3
Sep 2010	14	1	0
Oct 2010	26	4	1
Nov 2010	16	6	3
Dec 2010	19	1	2
Jan 2011	31	5	0
Feb 2011	12	2	1
Mar 2011	31	8	0
Apr 2011	13	1	1
May 2011	16	0	2
Jun 2011	19	1	0
Jul 2011	17	2	0
Aug 2011	13	1	0
Sep 2011	18	4	1
Oct 2011	21	3	0
Nov 2011	17	12	8
Dec 2011	8	8	5
Jan 2012	11	23	2
Feb 2012	6	18	2
Mar 2012	5	16	4
Apr 2012	13	26	4
May 2012	11	18	4
Jun 2012	9	29	6
Jul 2012	14	17	7
Aug 2012	11	24	0
Sep 2012	16	31	10
Oct 2012	24	33	8
Nov 2012	21	28	7
Dec 2012	17	26	5
Jan 2013	14	23	7
Feb 2013	10	23	2
Mar 2013	11	27	4
Apr 2013	16	17	4
May 2013	22	32	6
Jun 2013	8	8	1
Jul 2013	7	9	2
Aug 2013	6	13	0
Sep 2013	9	9	2
Oct 2013	10	11	2
Nov 2013	18	7	1
Dec 2013	31	5	1
Jan 2014	17	14	0
Feb 2014	11	11	1
Mar 2014	13	22	3
Apr 2014	6	16	7
May 2014	8	24	3
Jun 2014	3	20	5
Jul 2014	8	17	2
Aug 2014	12	14	2
Sep 2014	7	10	0
Oct 2014	6	12	21
Nov 2014	9	7	1
Dec 2014	1	6	7
Jan 2015	3	14	1
Feb 2015	4	1	2
Mar 2015	7	10	0
Apr 2015	0	5	1
May 2015	3	8	2
Jun 2015	2	4	0
Jul 2015	6	6	0
Aug 2015	7	8	1
Sep 2015	11	6	0
Oct 2015	3	7	1
Nov 2015	4	3	2
Dec 2015	6	6	1
Jan 2016	4	1	0
Feb 2016	2	3	2
Mar 2016	8	3	7
Apr 2016	5	4	1
May 2016	6	4	1
Jun 2016	2	10	0
Jul 2016	1	5	2
Aug 2016	1	5	2
Sep 2016	8	4	2
Oct 2016	1	6	1
Nov 2016	7	5	3
Dec 2016	0	6	2
Jan 2017	2	2	2
Feb 2017	2	2	1
Mar 2017	1	3	2
Apr 2017	0	4	0
May 2017	2	9	2
Jun 2017	5	8	1
Jul 2017	10	9	0
Aug 2017	15	11	1
Sep 2017	18	16	4
Oct 2017	10	8	0
Nov 2017	80	76	0
Dec 2017	77	75	1
Jan 2018	123	123	1
Feb 2018	42	38	0
Mar 2018	141	133	4
Apr 2018	53	46	1
May 2018	51	51	0
Jun 2018	32	30	3
Jul 2018	19	19	6
Aug 2018	62	58	4
Sep 2018	37	37	6
Oct 2018	51	51	1
Nov 2018	46	46	2
Dec 2018	61	61	5
Jan 2019	44	44	0
Feb 2019	47	45	5
Mar 2019	48	47	3
Apr 2019	10	10	5
May 2019	23	21	11
Jun 2019	20	20	5
Jul 2019	29	28	8
Aug 2019	18	16	5
Sep 2019	15	16	3
Oct 2019	12	12	2
Nov 2019	14	14	1
Dec 2019	29	29	5
Jan 2020	18	18	1
Feb 2020	15	13	3
Mar 2020	43	35	3
Apr 2020	11	9	1
May 2020	13	11	2
Jun 2020	6	4	2
Jul 2020	14	14	3
Aug 2020	10	10	2
Sep 2020	13	11	4
Oct 2020	7	7	4
Nov 2020	14	10	2
Dec 2020	16	13	4
Jan 2021	15	12	1
Feb 2021	15	15	1
Mar 2021	10	8	3
Apr 2021	11	11	1
May 2021	8	7	1
Jun 2021	6	6	1
Jul 2021	7	7	2
Aug 2021	8	8	4
Sep 2021	4	4	3
Oct 2021	14	12	3
Nov 2021	10	10	3
Dec 2021	4	4	4
Jan 2022	14	12	5
Feb 2022	10	10	1
Mar 2022	24	19	4
Apr 2022	12	12	1
May 2022	29	28	1
Jun 2022	24	23	0
Jul 2022	11	11	1
Aug 2022	36	32	3
Sep 2022	20	20	17
Oct 2022	32	30	4
Nov 2022	11	9	1
Dec 2022	10	9	0
Jan 2023	20	21	4
Feb 2023	32	32	1
Mar 2023	26	18	1
Apr 2023	17	16	5
May 2023	17	11	8
Jun 2023	23	15	0
Jul 2023	5	5	5
Aug 2023	12	9	4
Sep 2023	8	8	4
Oct 2023	17	15	0
Nov 2023	13	10	0
Dec 2023	13	3	1
Jan 2024	16	0	0
Feb 2024	14	1	0
Mar 2024	21	0	1
Total	4353	4014	874

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