Monosomy 7qter
Lambert, J.C.; Mariani, R.; Donzeau, M.; Ferrari, M.; Boutte, P.; Ayraud, N.
Archives Francaises de Pediatrie 38(3): 177-180
1981
ISSN/ISBN: 0003-9764 PMID: 7235841 Document Number: 178056
A terminal deletion of the long arm of chromosome 7 is identified in a boy observed from birth to age 6 months. Eleven previously reported cases were reviewed. Eleven previously reported cases were reviewed. The most common features are microcephaly with brachycephaly, prominent forehead, large ears, a nose with bulbous tip, overlapping toes, genital abnormalities in the males and excess of subcutaneous tissue. Delayed mental and physical development is a general rule but visceral malformations seem uncommon.