Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease

Table 1 Clinical and molecular overview of Xq28 microdeletions detected in MECP2- mutaiton-negative RTT females

Age (months)	Additional clinical features	Size (kb)	Breakpoints*
Age (months)	Additional clinical features	Size (kb)	Proximal	Distal
Atypical RTT
118	Multiple hematomas, teeth anomalies	502.428	153,145,800	153,648,227
132	Prenatal hypotrophy, facial dysmorphisms	502.428	153,145,800	153,648,227
58	Prenatal hypotrophy, facial dysmorphisms, clinodactyly, dentinogenesis imperfecta, cerebellar vermis hypoplasia, epidural cystic changes in the thoracic spine	502.428	153,145,800	153,648,227
48	Prenatal hypotrophy, facial dysmorphisms, verrucous patches on the trunk, patent foramen ovale	539.545	153,108,683	153,648,227
22	Facial dysmorphisms	877.444	152,731,931	153,609,374
Classic RTT
204	Prenatal hypotrophy, facial dysmorphisms	99.371	153,213,483	153,312,854
74	Hydronephrosis, polycystic kidney disease	99.371	153,213,483	153,312,854
49	Prenatal hypotrophy, facial dysmorphisms	99.371	153,213,483	153,312,854
101**	—	99.371	153,213,483	153,312,854
98	Prenatal hypotrophy	99.371	153,213,483	153,312,854

ISSN: 1755-8166