Partial 4q trisomy. Apropos of 3 cases.
Ann Genet, 1975/3;18(1):21-7.
Dutrillaux B, Laurent C, Forabosco A, Noel B, Suerinc E, Biemont MC, Cotton JB
PMID: 238457
Abstract
Three observations of partial trisomy 4q are reported: the first due to a familial translocation the second to a de nove translocation, the third to a "mirror" duplication. The very characteristic phenotype is compared to that of 4 other patients already reported in the literature. The most evocatory symptoms include: absent or poorly indicated nose bridge; pursed lips; shortness of the philtrum; and constant existence of a fold on the antitragus continuing the anthelix reachinghe insertion of the pinna.
MeSH terms
Abnormalities, Multiple; Child; Child, Preschool; Chromosome Aberrations; Chromosomes, Human, 4-5; Cryptorchidism; Dermatoglyphics; Ear; Eyelids; Female; Growth Disorders; Humans; Infant; Infant, Newborn; Karyotyping; Kidney; Lip; Male; Microcephaly; Micrognathism; Nose Deformities, Acquired; Translocation, Genetic; Trisomy
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