Monosomy 7qter
Turleau, C.; de Grouchy, J.; Perignon, F.; Lenoir, G.
Annales de Genetique 22(4): 242-244
1979
ISSN/ISBN: 0003-3995 PMID: 317790 Document Number: 150670
A de novo terminal del (7)(q35) was found in a 3-month-old girl referred because of a peculiar cry. This observation, with seven others from the literature permit the delineation of a syndrome characterized by severe microcephaly with a flattened occiput, a bulbous nose, a "double chin", and a broad thorax with widely spaced nipples, without internal organ malformations. Assays of Hageman factor (XII) revealed normal values. The proposita is heterozygous Jk (a + b +). The parents and the proposita are iny-1.