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Table 1 Phenotypical comparison of our patient and reported patients with 1q41q42 microdeletion syndrome

From: Psychomotor retardation with a 1q42.11–q42.12 deletion

Patient/source Our patient Rice et al., 2006 [41] Mazzeu et al.,2010 [42] Jun et. al.,2013 [43] Filges et al., 2010 [20] Decipher 1015 Decipher 266948 Decipher 300673
Coordinatea (chr1:) 224086911-226016203 219978228-225359888 219894313-229156924 223104211-223287570 221885000-227340000 220916999-226162869 222694079-227147000 222821378-226677842
Deletion size 1.9 Mb 5.4 Mb 1 Mb 183 Kb 5.45 Mb 5.25 Mb 4.45 Mb 3.86 Mb
Inheritance/origin de novo unknown De novo de novo de novo de novo de novo unknown
Brain Defect - + + + + NR NR NR
Cleft Palate - + + - + + + +
Hypotonia - + NR + - NR + NR
Heart Defect - - + - - + - -
Congenital Diaphragmatic Hernia - - - - - + - -
Seizures + + - + + - - -
Psychomotor Retardation + - - - - - - -
Number of Involved Genesb 13 >50 >20 2 >50 >40 >60 >50
  1. NR No Record
  2. aGRCh37/hg19 was used in coordinate
  3. bRefSeq genes involved were counted in UCSC browser (http://genome.ucsc.edu/)