Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

Table 1

Phenotype traits of our patients with a 4p deletion of ~6.5 Mb compared with the frequencies of the main clinical features associated with 4p deletions of an average size between 5 and 18 Mb, from Zollino et al. [5].

	II-2	II-4	%
Sex	Male	Female
Age at examination (years. Months)	9.9	7.5
Preterm delivery (<38 weeks)	+	+
Hypotonia	+	+	91
Mild/moderate mental retardation	−	−	24
Severe mental retardation	+	+	80
Seizures	+	+	80
Prenatal growth delay	+	+	84
Postnatal growth delay	+	+	91
Microcephaly	+	+	95
Typical facial dysmorphisms	+	+	100
Cranial asymmetry	+	+
Round-broad face	+	+
High-diffuse frontal hair line	+	+
High forehead	+	+
Prominent glabella	+	+
Sparse eyebrows	+	+
Long eyelashes	+	+
Downslanting palpebral fissures	+	−
Ptosis	+^L	−
Exophthalmos	+^R	+
Ocular coloboma	−	−	30
Strabismus	+	+
Hypertelorism	+	+
Broad nasal bridge	+	+
Beaked nose	+	+
Short nasal wings	+	+
Short philtrum	+	+
Prominent philtrum columns	+	+
Downturned corners of mouth	+	+
Cleft lip/palate	+^a	+^a	25
Oligodontia	+	+
Micrognathia	+	+
Prominent ears	+	+
Low set and malformed ears	+	+
Others
Brain anomalies	+^b	+^b
Hearing loss	+	+
Congenital heart defects	+^c	+^d	52
Renal abnormalities	−	+^e	37
Hypospadias	−	NA	41
Skeletal anomalies	+^f	+^f	37
Sacral dimple	+	+

Clinical findings: +: present; −: absent; R: right; L: left; NA: not applicable.
^aCleft palate.
^bCortical/subcortical atrophy, enlargement of lateral ventricles, and septum pellucidum agenesis.
^cVentricular septal defect and pulmonary stenosis.
^dAtrial septal defect.
^eMalrotation of left kidney.
^fHip dislocation.