Table 1. Patients reported herein with 19p13.3 rearrangements.
| Patients | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | Patient 10 | Patient 11 | Patient 12 | Patient 13 | Subtotal | Frequency, all casesa | Total (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Type of rearrangement | Deletion | Deletion | Deletion | Deletion | Deletion | Deletion | Deletion | Duplication | Deletion | Duplication | Deletion | Deletion | Deletion | 11del/2dup | 24del/3dup | |
| Included in our SRO | Y | Y | Y | Y | Y | ± | Y | Y | Y | N | Y | Y | Y | 11/13 | 24/27 | 88.88 |
| Includes PIAS4 | Y | Y | Y | Y | Y | N | Y | Y | Y | N | Y | Y | Y | 11/13 | 24/27 | 88.88 |
| Gender | F | F | M | F | M | M | M | F | F | F | M | F | F | 8F/5M | 15F/12M | 1.25:1 (F:M) |
| Age diagnosis | 7 yr | 9 yr | 10 yr | 5 yr | 3 yr | 5 yr | NB (current 5 yr) | 6 yr | 10 yr | NB (current 3 yr) | 6 yr | 20 mo | 5 yr, 6 mo | NB to 10 yrs | NB to 23 yrs | |
| Growth and develop | ||||||||||||||||
| Psychom develop delay | + | + | + | + | + | + | Mild | ++ | + | + | + | + | + | 13/13 | 27/27 | 100 |
| Intellectual disability | Mild | + | Mild | Mild | + | + | + | + | Mild | Mild | + | + | + | 13/13 | 26/26 | 100 |
| Speech delay | + | + | + | + | + | ++ | + | +/Basic sentences | + | NA | + | 10/10 | 19/19 | 100 | ||
| Macro-/microcephaly | + p>97 | + p>97 | + p>97 | Macro relative | + p>97 | Normo | + p>97 | -4.4SD | + p>97 | Normo | + p>97 | + p>97 | + p>97 | 11/13 | 25/27 | 92.59 |
| Overgrowth synd testing | − | + | − | − | + | − | − | − | − | − | − | − | +At birth | 3/13 | 4/14 | 28.57 |
| Proportionate short stature | + | − | + | + | − | + | − | + | + | 6/09 | 8/11 | 72.72 | ||||
| Face | ++ | |||||||||||||||
| Hypertelorism | + | + | + | + | + | + | − | + | + | + | 9/10 | 17/18 | 94.44 | |||
| Downslanting palpebral fissures | − | − | + | − | + | + | − | − | Upslant | 3/9 down 1/9 up | 12/20 down 2/20 up | 60.00 | ||||
| Short palpebral fissures | − | − | − | 0/3 | 2/5 | 40.00 | ||||||||||
| Ptosis | − | − | − | − | − | + | − | − | − | 1/9 | 4/12 | 33.33 | ||||
| Epicanthal folds | + | + | − | − | − | − | − | − | Mild | 3/9 | 5/11 | 45.45 | ||||
| Wide nasal bridge | + | + | + | + | + | + | + | + | + | + | 10/10 | 19/19 | 100 | |||
| Depressed nose and root | + | + | + | − | − | + | + | + | + | 7/10 | 9/13 | 69.23 | ||||
| Philtrum anomalies | Short | Short | − | Short | Short | − | Short | − | − | 5/9 | 10/14 | 71.43 | ||||
| Thin upper lip | + | + | + | + | + | + | + | − | − | 7/9 | 16/19 | 84.21 | ||||
| Ear anomalies | + | + | + | + | + | + | − | − | + | + | 8/10 | 17/19 | 89.47 | |||
| High or prom forehead | + | + | + | + | + | + | + | + | Mild | + | + | 11/11 | 24/24 | 100 | ||
| Neurology | ||||||||||||||||
| Hypotonia | + | + | + | + | + | + | + | + | Mild | + | + | + | 12/12 | 21/25 | 84.00 | |
| Behavior | Timid | − | − | − | − | Aggressive/ hyperactive | Deficit of attention | Abnormal | Abnormal | 5/9 | 6/10 | 60.00 | ||||
| Hearing problems | − | − | − | − | − | − | − | − | − | − | − | − | + | 1/13 | 4/17 | 23.52 |
| Others | ||||||||||||||||
| Cutis aplasia | − | − | − | − | − | − | − | − | − | 0/9 | 3/22 | 13.64 | ||||
| Urinary reflux | + | + | - | - | 2/4 | 3/5 | 60.00 | |||||||||
| Gastroesophageal reflux | + | + | + | + | 4/4 | 13/14 | 92.85 | |||||||||
| Abnormal fingers/toes | Syndactyly | + | + | + | + | + | 6/6 | 13/15 | 86.67 | |||||||
| Feeding problems | + | − | + | + | − | − | + | + | + | 6/9 | 14/22 | 63.63 | ||||
| Ophthalmologic abnormalities | + | + | + | + | − | + | − | − | + | 6/9 | 7/10 | 70.00 | ||||
| Umbilical hernias | + | + | + | + | 4/4 | 6/12 | 50.00 | |||||||||
| Sleeping disorders | − | + | + | + | 3/3 | 10/13 | 76.90 | |||||||||
| Heart disease | − | − | + | − | + | + | + | − | + | + | + | 7/11 | 15/24 | 62.50 | ||
Abbreviations: develop, development; F, female; M, male; Macro, macrocephaly; mo, months; N, no; NA, not applicable; NB, newborn; Normo, normocephaly; p, percentile; prom, prominent; psychom, psychomotor; synd, syndrome; Y, yes; yr, years. A frequency over 75% is marked in bold. +, feature present; –, feature absent; ++, feature severe.
a
Includes 14 cases from the literature (13 deletions and 1 duplication, Table 2).