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Table 1 Summary of patients harboring 21q deletions overlapping with patients 1–5 and corresponding clinical features

From: Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

Patient Age at diagnosis (yr) Phenotype (main features) Chromosomal coordinates of deletion (hg38) Size (Mb) Genes (protein coding) Inheritance Pathogenicity
Patients 1-2-3 (present study) 53 (#1), 20 (#2), 18 (#3) Obsessive-compulsive disorders, impaired social interactions, aggressiveness, delayed speech and language development, mild facial dismorphisms chr21:21754822-32380347 10.63 112 (52) Paternal Pathogenic
Patient 4 (present study) 6 Intellectual disability, global movement impairment, dysmorphic features, dyslexia, dyscalculia, primary amenorrhoea, obesity, pituitary microadenoma chr21:13048294-27532614 14.48 117 (21) De novo Pathogenic
Patient 5 (present study) 4 Intellectual disability, mild psychomotor delay, speech delay, hypotonia, DCD (a), Duane syndrome type 3, bilateral iris/choroidal coloboma chr21:14000146-27785985 13.79 112 (23) De novo Pathogenic
chr16:28813473-29030738 0.22 35 (24) Maternal Pathogenic
Case 1 (Petit et al., 2015) [24] Decipher#276325 7 Behavioural/psychiatric abnormality, attention deficit, impaired social interactions, frustration, aggressiveness, delayed speech and language development chr21:21062316-24943120 3.88 16 (1) Maternal Unknown
Case 2 (Petit et al., 2015) [24] Decipher#254181 9 Global developmental delay, speech delay, hyperactivity, impairment of social interactions chr21:15619936-23525918 7.91 50 (9) Paternal (mosaicism) Unknown
Case 3 (Petit et al., 2015) [24] Decipher#274603 5 Global developmental delay, hypotonia, constipation, impaired social interactions chr21:16079383-24575840 8.50 48 (7) Unknown Unknown
KKI patient 3 - cohort A (Roberson et al., 2011) 6 Speech delay, mild/moderate mental retardation, dysmorfic features, hypotonia, GERD (b), eczema, dermatographism chr21:16814345-33232252 16.42 159 (69) De novo Unknown
chr4:65863868-66006319 0.14 0 Maternal Unlikely pathogenic
chr14:22625231–22795061 (c) 0.17 (c) 2 (2) Paternal Unlikely pathogenic
GM00137 - cohort B (Roberson et al., 2011) [1] 6 Severe psychomotor retardation, microcephaly, dysmorphic features, bilateral iris coloboma chr21:13403408-28392024 14.99 124 (23) Unknown Unknown
chr4:68917-11238519 11.17 229 (122) Unknown Unknown
GM06918 - cohort B (Roberson et al., 2011) [1] 9 Mental retardation, dysmorphic features chr21:14981488-32298829 17.32 156 (61) De novo Unknown
Haldeman-Englert et al., 2010 [13] 2 Poor social interactions, speech delay, mild dysmorphic features, PDD-NOS (d) chr21:21085454-29813876 8.73 62 (18) De novo Pathogenic
Case 31 (Lyle et al., 2009) [2] Unknown Dysmorphic features, short stature, mental retardation, synbrachydactily chr21:12965809-30890916 17.93 180 (56) Unknown Unknown
Case 32 (Lyle et al., 2009) [2] Unknown Dysmorphic features, short stature, mental retardation, microcephaly, clinodactily, hypotonia chr21:12965809-30218169 17.26 145 (31) Unknown Unknown
Case 33 (Lyle et al., 2009) [2] Unknown Mental retardation chr21:12965809-26199556 13.23 108 (15) Unknown Unknown
Hannachi et al., 2011 [20] 26 Moderate mental retardation, minor brain malformations, craniofacial dysmorphic features, azoospermia, diffuse cerebral atrophy chr21:13603505-29194209 15.59 130 (23) Maternal Likely pathogenic
Decipher#285024 2 Ataxia, intellectual disability, poor speech, lower limb spasticity, speech articulation difficulties chr21:13224687-27912651 14.69 124 (23) Unknown Pathogenic
Decipher#285691 10 Cognitive impairment, generalized myoclonic seizures, microcephaly, asymmetry of the ears chr21:13045202-33522318 20.48 217 (76) Unknown Pathogenic
ECARUCA#4777 16 Mental retardation, seizures/abnormal EEG (e), short stature, prominent maxilla, dislocation of hip, atrial septum defect chr21:14166659-20412272 6.25 66 (13) De novo Unknown
chr21:43013575-46699983 3.69 116 (67) De novo Unknown
ECARUCA#4841 9 Mental retardation, seizures/abnormal EEG (e), facial dysmorphisms chr21:15292766-19704615 4.41 31 (6) De novo Unknown
  1. (a) DCD developmental coordination disorder (b) GERD gastroesophageal reflux disease (c)duplication (d) PDD-NOS pervasive developmental disorder not otherwise specified (e) EEG Electroencephalogram