Fig. 2

Metaphase fluorescence in situ hybridization (FISH) analysis on cultured lymphocytes of the mother (a) and cultured amniocytes of the affected fetus (case #18; b); (a) shows normal signaling (green signal: control, red signal: WHS-probe, thin white arrow) in both copies of chromosome 4 of the mother; (b) shows one green signal (control) and one red signal (WHS-probe, thin white arrow) in one copy of chromosome 4, and a missing red signal (deletion, thick white arrow) on the other copy of chromosome 4; (c) shows a photograph of the female newborn (case #18) one day after birth; note the broad, flat nasal bridge and the high forehead (“greek warrior helmet”), the widely spaced eyes, short philtrum and a downturned mouth. Left-sided ear-tags can be seen. FISH Images (a+b) provided by courtesy of MVZ Humangenetik Köln GmbH, Dr. D. Meschede; labelling and image editing by C. Simonini; Photo (c) provided by courtesy of the parents