Skip to main content

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

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

Age (months) Additional clinical features Size (kb) Breakpoints*
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
  1. * — according to assembly: hg19 Feb. 2009 Genome Reference Consortium GRCh37;
  2. ** — somatic mosaicism and discrepancy between array CGH and FISH data.