inv dup 8p3-150 | dir dup 8p3-151 | t (4p;8p)3-152 |
Our patients 1–5 | WHS3-153 | Our patient 6 | Trisomy 7p3-154 | ||||||||
Duplicated segment | At least 8p21.1-p21.3 | 8p22-p23.1 or 8p21.3-p22 | 8p21-pter | 8p | 7/24 | 7p | 7p11.2-pter | |||||||
− | ||||||||||||||
8p23.1-pter | ||||||||||||||
Monosomic segment | 8p23.1-pter in 6 cases | none | 4p15.3-pter | 4p | 4p14-16 | 4p | 7q36-qter | |||||||
− | ||||||||||||||
4p16.3-pter | ||||||||||||||
De novo | 14/15 | − | 0/8 | 4/5 | 8/11 | + | 2/3 | |||||||
Sex | 12 F; 8 M | 3 F; 3 M | 2 F; 6 M | 5 F | 14 F; 10 M | M | 2 M; 1 F | |||||||
Mental retardation | 20/20 | 5/6 | 8/8 | 5/5 | 22/23 | + | 3/3 | |||||||
Muscular hypotonia | 13/13 | 0/6 | 4/4 | 4/5 | 20/24 | + | 2/2 | |||||||
Seizures/EEG anomaly | 1/2 | 0/6 | 5/8 | 4/5 | 18/24 | + | NR | |||||||
Normal birth weight | 7/8 | 4/4 | 0/6 | 0/5 | 0/13 | − | 2/3 | |||||||
Low birth weight (<3rd centile) | 1/17 | 0/4 | 6/6 | 5/5 | 13/13 | + | 1/3 | |||||||
Postnatal normal stature | 3/6 | 3/5 | 0/6 | 0/5 | 4/23 | − | 0/2 | |||||||
Postnatal short stature | 2/6 | 2/5 | 6/6 | 5/5 | 19/23 | + | 2/2 | |||||||
Absence of dysmorphic signs | 10/10 | 2/3 | 0/8 | 0/5 | 0/23 | − | 0/3 | |||||||
Craniofacial anomalies | ||||||||||||||
Microcephaly | 3/14 | 0/6 | 5/5 | 5/5 | 20/24 | − | 2/3 | |||||||
Macrocephaly | 2/14 | 0/6 | 0/5 | 0/5 | 0/13 | − | 1/3 | |||||||
Wide open fontanelles | 0/1 | NR | NR | 3/5 | NR | + | 3/3 | |||||||
Flat occiput | 8/13 | 0/3 | 1/1 | 1/2 | NR | − | NR | |||||||
Prominent forehead | 13/18 | 3/6 | 5/5 | 5/5 | 8/11 | + | 2/3 | |||||||
Prominent glabella | 0/5 | 0/3 | 4/5 | 3/5 | 18/24 | − | 0/3 | |||||||
Hypertelorism | 3/15 | 1/3 | 7/7 | 5/5 | 20/24 | + | 3/3 | |||||||
Hypotelorism | 3/15 | 0/3 | 0/7 | 0/5 | 0/13 | − | 0/3 | |||||||
Strabismus | 1/1 | 0/3 | 3/4 | 4/5 | 13/23 | + | NR | |||||||
Broad nasal bridge | 11/17 | 3/6 | 6/6 | 5/5 | 20/24 | + | 1/3 | |||||||
Narrow nasal bridge | 2/6 | 0/3 | 0/6 | 0/5 | 0/13 | − | 1/3 | |||||||
Anteverted nares | 7/18 | 0/3 | 1/4 | 0/5 | NR | − | 2/3 | |||||||
Beaked nose | 3/6 | 0/3 | 2/6 | 0/5 | 6/11 | + | 1/2 | |||||||
Short philtrum | 1/6 | 1/6 | 7/7 | 3/5 | 13/13 | + | 1/2 | |||||||
Long philtrum | 2/6 | 0/6 | 0/7 | 0/5 | 0/13 | − | 2/3 | |||||||
Large mouth | 14/19 | 0/6 | 4/5 | 2/5 | 10/13 | + | 1/3 | |||||||
Downturned corners of mouth | 1/5 | 0/3 | 3/4 | 5/5 | 13/13 | 1/3 | ||||||||
Thin upper lip | 9/17 | 2/6 | 2/5 | 4/5 | 6/13 | + | 3/3 | |||||||
High arched palate | 10/13 | 0/3 | 1/3 | 0/2 | 2/11 | + | NR | |||||||
Cleft lip/palate | NR | 0/3 | 4/5 | 3/5 | 8/24 | − | NR | |||||||
Abnormal dentition | 12/13 | 1/5 | 3/3 | 1/1 | 1/11 | − | 1/1 | |||||||
Micrognathia | 6/8 | 0/6 | 6/8 | 5/5 | 18/24 | + | 3/3 | |||||||
Large chin | 2/8 | 1/6 | 1/5 | 0/5 | 0/13 | − | 1/3 | |||||||
Small ears | 0/9 | 0/3 | 0/3 | 0/5 | 1/11 | + | NR | |||||||
Large ears | 8/9 | 0/3 | 0/3 | 0/5 | 2/11 | − | NR | |||||||
Dysplastic ears | 15/18 | 0/3 | 6/7 | 5/5 | 18/24 | + | 3/3 | |||||||
Brain anomalies | ||||||||||||||
Enlarged ventricles | 2/6 | 0/3 | 1/2 | 0/2 | NR | + | 1/1 | |||||||
Agenesis of corpus callosum | 4/6 | 0/3 | 0/2 | 0/2 | NR | + | NR | |||||||
Cortical atrophy | 2/6 | 0/3 | 0/2 | 0/2 | NR | + | NR | |||||||
Congenital heart defect | 5/12 | 0/6 | 3/5 | 2/5 | 6/24 | 2/3 | ||||||||
Scoliosis | 6/13 | 0/3 | 1/3 | 0/5 | 3/13 | − | NR | |||||||
Hypoplastic external genitalia | 1/2 | 0/5 | 2/2 | 1/4 | 3/11 | + | 2/2 | |||||||
Hypospadias | NR | 0/5 | 5/5 | / | 7/10 | + | 0/2 | |||||||
Renal anomalies | 1/2 | 0/3 | 2/5 | 1/3 | 2/11 | + | NR | |||||||
Inguinal/umbilical hernia | 3/13 | 0/3 | 2/2 | 0/3 | NR | − | NR | |||||||
Megacolon | NR | 0/3 | 0/2 | 0/3 | NR | + | 1/1 |