Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children

Table 1 Characteristics of children with a 22q13.3 deletion

Patient	Age 1st test (mo)	Age 2nd test (mo)	Gender	Deletion type	Deletion size (Mb)	Walking unassisted (mo)	Medication at 1st assessment
1	8	13	M	Terminal	6.5	25 (crawling)	None
2	10	16	F	Terminal	2.1	12	None
3	11	22	F	Terminal	1.9	19	None
4	16	27	F	Terminal	7.7	36	Salbutamol (as needed)
5	17	23	F	Terminal + dup 13q (2.3 Mb)	7.3	39 (walking assisted)	None
6	17	n.a.	F	Terminal	9.2	12 (rolling over)	None
7	35	n.a.	M	Terminal^a	4.4	21	Not reported
8	37	46	F	Terminal	3.2	30	Valproic acid (for absence like periods)
9	37	45	M	Terminal	2.1	17	None
10	39	n.a.	F	Terminal	182 kb	16	Not reported
11	42	48	F	Terminal	587 kb	24	Macrogol and omeprazole
12	42	53	F	Terminal	6.2	27	None
13	43	49	F	Terminal^b	6.6	20	None
14	44	55	F	Terminal	7.4	76	None
15	46	62	F	Terminal	6.2	25	None
16	46	57	F	Terminal + del 16p (761 kb)	3.0	42	Beclometason dipropionate, salbutamole, ipratropium bromide
17	47	57	M	Terminal	182 kb	18	Risperidone and clonidine
18	64	n.a.	F	Terminal	183 kb	16	Macrogol
19	65	75	F	Ring 22	2.3	23	None
20	72	82	F	Terminal	1.6	17	None
21	83	96	M	Ring 22	3.1	28	None
22	89	99	F	Ring 22	3.4	31	None
23	92	101	M	Ring 22	2.7	24	None
24	92	n.a.	F	Terminal^c	n.a.	n.a.	Not reported
25	95	109	M	Terminal	6.1	43	Melatonin
26	95	105	F	Terminal	6.4	96	Omeprazole, alginic acid, domperidone, trimethoprim, melatonin
27	109	119	F	Terminal	377 kb	16	Melatonin
28	112	118	F	Terminal + dup 12q (5.1 Mb)	2.0	22	None
29	113	123	M	Terminal	7.8	48	None
30	118	129	F	Ring 22	3.4	32	None
31	119	126	F	Terminal	224 kb	15	None
32	142	150	M	Terminal	5.0	24 (walking assisted)	Alimemazine and melatonin
33	147	157	F	Terminal	3.5	32	None
34	178	189	F	Terminal	5.7	19	Lamotrigine (for fever-induced convulsions)

mo months, n.a. not available, M male, F female, dup duplication, del deletion
^aMosaic deletion (in 25 % of peripheral blood cells)
^bMosaic of 6.6 and 6.2 Mb deletion (in 80–85 % and 15–20 % of cells, respectively)
^cDiagnosis with FISH only

ISSN: 1866-1955