46, xy, del (3) (pter→p25) syndrome : further delineation of the clinical phenotype

A boy with monosomy for the distal part of the short arm of chromosome 3 is described. The clinical features this patient has in common with the previously reported cases include pre- and post-natal growth delay, microcephaly, craniofacial dysmorphism and mental retardation. In addition, minor abnor...

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Bibliographic Details
Published in:European journal of pediatrics 1999-12, Vol.158 (12), p.955-957
Main Authors: BENINI, D, VINO, L, VECCHINI, S, FANOS, V
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Chromosome aberrations
Chromosome Deletion
Chromosomes, Human, Pair 3 - genetics
Craniofacial Abnormalities - genetics
Humans
Infant
Intellectual Disability - genetics
Male
Medical genetics
Medical sciences
Microcephaly - genetics
Monosomy
Muscle Hypotonia - genetics
Syndrome
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Summary:A boy with monosomy for the distal part of the short arm of chromosome 3 is described. The clinical features this patient has in common with the previously reported cases include pre- and post-natal growth delay, microcephaly, craniofacial dysmorphism and mental retardation. In addition, minor abnormalities not previously reported were observed, such as snapping thumbs, dorsiflected big toes, connecting anterior and posterior fontanelles at birth, nasolacrimal duct stenosis and double urethral meatus. Conclusion These five new clinical findings may help in further delineation of the syndrome and allow its early recognition. A complete revision of clinical findings published in literature is reported.
ISSN:0340-6199
1432-1076
DOI:10.1007/s004310051256