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Partial trisomy for the distal long arm of chromosome 5 (region q34→qter). A new clinically recognizable syndrome
Author(s) -
Curry Cynthia J. R.,
Loughman William D.,
Francke Uta,
Hall Bryan D.,
Golbus Mitchell S.,
Dersttne Judy,
Epstein Charles J.
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb01779.x
Subject(s) - chromosome , chromosomal translocation , long arm , trisomy , genetics , karyotype , biology , short stature , chromosomal rearrangement , g banding , endocrinology , gene
This report describes a family in which eight individuals in three generations had mental retardation in association with a characteristic pattern of clinical problems and physical abnormalities including short stature, eczema, hernias, delayed puberty, dysmorphic facies and digital anomalies. The family history was consistent with a chromosomal rearrangement with transmission through balanced carriers. Routine ASG banding studies showed extra chromosomal material on a chromosome 16 but failed to demonstrate any differences between the affected individuals and the presumed carriers. However, subsequent studies utilizing trypsin banding and microspectrophotometry of individual chromosomes demonstrated that the affected individuals were partially trisomic for the distal band of the long arm of chromosome 5 and that 0.273 units of a chromosome 5 were translocated to chromosome 16. This definitive cytogenetic diagnosis permitted accurate prenatal diagnosis to be carried out on the fetus of a balanced carrier female. The application of these techniques to previously obscure familial dysmorphic syndromes is recommended.