Table 2

Comparison of the main patient characteristics of the present study population between patients with and without a cytogenetic anomaly

No cytogenetic anomalies (A)Cytogenetic anomalies (B)
Patient characteristicsTotalp valueaTotalbMicroscopicSubmicroscopic
aStatistical analysis made between cases from total group A and total group B; not statistically significant p values (p>0.05) not listed.
*=Mann-Whitney test used (for comparing non-continuous variables with a normal distribution).
**=Chi-square test (for comparing three categories: n=0/n=1/n>1).
***=Chi-square test used (for comparing dichotomous variables).
bTotal: includes two patients with a microscopic as well as a submicroscopic anomaly.
cStructures (n=22) include: abnormal OFC, neurocranial shape, sutures, facial shape, forehead, upper jaw, lower jaw, eyebrows, eyes, nose, mouth, teeth, ears, neck, chest (including thoracic cage, sternum, breasts, nipples), abdomen (including umbilical cord, anus), genitalia, arms, hands (including fingers), legs, feet (including toes), hair, skin (including local and general anomalies, pigmentation, vascular, lacrimal and sweat glands, nails, hirsutism), joints, muscles, obesity, short stature, tall stature.
dInternal organs include: respiratory tract, heart and great vessels, gastrointestinal tract, urinary tract.
eCNS (central nervous system): intracranial structures and spinal cord.
fBirth weight <2nd centile.
gBirth weight >98th centile.
hPostnatal length <2nd centile.
iPostnatal length >98th centile.
jBehavioural disorders include those based on DSM-IV criteria (ADHD, autism, obsessive compulsive disorder), as well as those based on anamnestic data (autistiform behaviour, hyperactivity, temper tantrums, tics).
kIn first, second, and third degree relatives.
lAge at the time of conception.
No of patients183292110
Gender (male:female)108:7513:1610:114:6
Age at evaluation (mean/SD/range)7.5/4.3/0.3–17.87.3/5.7/0–17.97.2/5.4/0.0–17.28.3/8/0.6–17.9
MR (in %): borderline/mild/moderate/severe/profound16/39/33/9/27/58/28/7/05/57/33/5/010/70/10/10/ 0
Total No of affected structuresc (range/25th/50th/75th centiles)0–14/5/7/9p=0.021*6–12/7.5/8/9.56–12/7.5/8/8.56–11/8/9/9
Total (range/25th/50th/75th centiles):No of minor anomalies0–20/5/9/12p=0.006*5–18/9/10/145–18/9/10/13.55–17/7/10/16
No of malformations0–9/0/1/20–8/1/1/2.50–8/1/1/2.51–5/1/2/3
Facial (range/25th/50th/75th centiles):No of minor anomalies0–14/3/5/8p=0.007*1–14/6/7/91–13/5/6/71–14/5/7/9
No of malformations0–4/0/0/10–3/0/1/10–2/0/0/10–3/0/1/1
Non-facial (range/25th/50th/75th centiles):No of minor anomalies0–9/1/3/50–10/2.5/4/52–10/3/4/50–8/1/3/6
No of malformations0–9/0/1/10–6/0/1/20–6/0/1/20–3/0/1/2
Internal organ malformationsd (%) n=0/n=1/n=2/n=383/14/2/1p=0.001**55/31/14/052/29/19/060/40/0/0
CNS malformationse (%) n=0/n=1/n=2/n=3/n≥478/14/6/283/14/386/14/0/080/10/10/0
Prenatal growth:Retardationf25% (43/173)27% (7/26)30% (6/20)29% (2/7)
Accelerationg2% (3/173)27% (7/26)5% (1/20)29% (2/7)
Postnatal growth:Retardationh26% (48/182)p=0.024***72% (21/29)29% (6/21)40% (4/10)
Accelerationi4% (8/183)7% (2/29)10% (2/21)0% (0/10)
Obesity7% (13/183)3% (1/29)0% (0/21)10% (1/10)
Sensory deficits:Vision9% (18/183)10% (3/29)5% (1/21)20% (2/10)
Hearing11% (20/183)10% (3/29)10% (2/21)10% (1/10)
Epilepsy19% (34/183)28% (8/29)9% (6/21)20% (2/10)
Behavioural disordersj78% (141/182)p=0.011***55% (16/29)48% (10/21)70% (7/10)
Consanguinityk7% (13/175)0% (0/29)0% (0/21)0% (0/8)
Maternal age >35 yl13% (16/122)10% (3/23)5% (1/20)43% (3/7)
Paternal age >35 yl31% (37/118)22% (5/23)15% (3/20)43% (3/7)
Recurrent miscarriages16% (26/162)p=0.02***35% (9/26)35% (7/20)29% (2/7)
Familial MRk51% (93/181)p=0.03***25% (7/28)29% (6/21)22% (2/9)
Familial MCAk44% (77/177)41% (11/27)38% (8/21)38% (3/8)