Table 2 The genomics and clinical presentations of previously reported deletion cases at 2q35-q36.2
Case ID | Sex | Age at exam (yrs) | Cytogenetic location of the deletion | stature | WS related features | Developmental issues | Additional features | Year reported or database | Reference |
|---|---|---|---|---|---|---|---|---|---|
Case 1 | M | 22 | 2q35-2q36.1 (221107075–222960879) | NA | NA | NA | Abnormal hands | DECIPHER 282314 | |
Case 2 | M | 4 | 2q35-q36.1 (215300000–225200000) | Smaller than 95% of his age-matched peers | WS1 (DC, CHL, HI) | MD, ID | NA | 1993 | [6] |
Case 3 | F | ? | 2q35-2q36.1 (219971907–224926273) | Short stature | WS1 (DC, HI, synophrys) | ID | NA | DECIPHER 248718 | |
Case 4 | F | 8 | 2q34-2q36.1 (213206475–222612545) | Proportionate short stature | NA | SLD, ID | Postnatal microcephaly, bifid uvula, heart abnormality | DECIPHER 281765 | |
Case 5 | F | 5 | 2q34-q36 (209000000–231,000,000) | Short stature | NA | Normal intelligence | NA | 1976 | [14] |
Case 6 | M | 6 | 2q35-q36.2 (215300001–226100000) | <5 percentile | WS3 (DC, HNA, HI, SD) | Mild MD, DD, ID | Normal hearing, speech and bone age | 1992 | [15] |
Case 7 | M | 4 | 2q35-q36.2 (215300001–226100000) | NA | WS3 (DC, HNA, HI, HLM, synophrys) blepharophimosis, a bulbous nose, a cupid’s bow upper lip with a short philtrum and high nasal bridge | NA | NA | 1998 | [16] |
Case 8 | F | 4 | 2q35-q36.2 (215300001–226100000) | NA | WS3 (DC, HNA, HLM, Synophrys) a cupid’s bow upper lip, a bulbous nose and high nasal bridge | SLD | Myelomeningocele; small hands; rthrogryposis and camptodactyly partial subluxation | 1998 | [16] |
Case 9 | M | 11 | 2q34-q36.2 (209000000–226100000) | Severe growth retardation | WS1 (DC, BNR, CHL, HNA, WF) | ID | NA | 1994 | [4] |
Case 10 | F | 5 | 2q35-q36 (215300001–231000000) | Short stature | WS3 (CHL, HH, HI, BNR, DC, HNA, synophrys) | Severe DD | NA | 1993 | [5] |
Case 11 | F | 4 | 2q36 (221,500,001-231,000,000) | NA | WS1 (CHL, DC, HH) | - | Medial eyebrow flare | 2013 | [9] |
Case 12 | F | infant | De novo 2q36 (221,500,001-231,000,000) | IUGR | Hypertelorism, hypoplastic nasal bridge with prominent nasal tip and anteverted nares. | DD | NA | 1993 | [17] |