[Monosomy 7qter (author's transl)].
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007231:Infant, Newborn; D008297:Male
La monosomie 7qter. A propos d'une observation.