PMC1379634_01
PMC1379634_02
These photographs demonstrate the mild dysmorphic features of the patient, including microcephaly, a triangular and mildly asymmetric face, prominent forehead, slightly downslanting and almond-shaped palpebral fissures, mild ptosis, high nasal bridge and a small chin (panels A and B). He had bilateral 5th finger clinodactyly (panel C) and bilateral optic nerve hypoplasia (panel D).
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F1
On physical examination (Figure 1), the patient's height is 51 inches (10th centile), his weight is 42 pounds (3rd centile) and his head circumference is 49.5 cm (<3rd centile, the 50th centile for a 2 year-old).
Routine cytogenetics identified a translocation of material of unknown origin onto 13q33 (panel A). Using probes specific for subtelomeric sequences, a translocation was identified from 16p (green) onto 13q (panel B, red probe is for 16q). Similarly, two probes for distal 13q (red and green probes, panel C) were absent from one chromosome 13 identified using an aqua-labeled proximal 13q probe. A FISH BAC probe specific for the ZIC2 gene on 13q (panel D, green probe) confirms that it is not deleted in this patient.
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F2
Routine karyotyping showed a translocation of material of unknown origin onto 13q33 (Figure 2).