Distal Xq duplication and functional Xq disomy

Table 1 Comparison of clinical symptoms observed in three groups of patients with Xq duplications.

		Xq21q24 DF*	Xq26.3qter DF**	MECP2 duplication ***
Number of cases		12	21	47
Caesarean section		0/1	8/14	nr
Growth
	Growth retardation	9/10	17/19	2/3
	Microcephaly	4/5	19/19	5/39
Facial dysmorphism
	Prominent metopic suture	nr	5/15	nr
	Epicanthus fold	nr	5/6	1/8
	Large ears	nr	9/12	4/20
	Small mouth	nr	11/13	6/20
	Abnormal palate/maxillar alveolus	nr	13/14	nr
	Facial hypotonia	nr	3/4	19/28
Neurologic outcome
	Hypotonia	11/11	19/19	29/32
	Developmental delay	12/12	19/19	47/47
	Absent or delayed speech	nr	11/14	46/47
	Never walked or limited walking	nr	12/14	21/34
	Spacticity	nr	3/4	17/21
	Seizures	nr	6/16	22/42
Malformations
	Hypoplastic genitalia/cryptorchidism	11/11	15/19	5/10
Others
	Severe feeding problems	9/9	10/14	15/29
	Gastroesophageal reflux	nr	4/7	13/17
	Constipation	nr	5/5	nr
	Small feet	nr	8/8	nr
	Digital abnormalities	5/5	13/19	6/20
	Recurrent infections	2/2	15/17	33/40

nr : not recorder
* modified from Cheng SF et al.[1] and Gabbett et al.[19]
** modified from Sanlaville et al.[5] and Smyk et al.[20]
*** modified from Ariani et al.[27], Meins et al.[28], Van Esch et al[26]., Freiz et al.[29], del Gaudio et al.[30], Madrigal et al.[31], and Smyk et al.[20].

ISSN: 1750-1172