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Familial D/D translocation t(13q;14q) Eight members in four generations
Author(s) -
Centerwall Willard R.,
Merrell Preston R.
Publication year - 1975
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.1399-0004.1975.tb00303.x
Subject(s) - chromosomal translocation , genetics , biology , medicine , gene
Eight family members spanning four generations were found to have 45 chromosome count D/D translocation identified by Giemsa‐trypsin banding as t(13q;14q). The only mature male is believed to be infertile on the basis of a very low sperm count with reduced motility. This is believed to be related to the chromosome aberration and not to be coincidental. Aside from this, all were clinically normal except the index case, a young girl with unusual facies and moderate to severe retardation of growth and development. It is believed that her abnormalities were coincidental to the chromosome translocation and fortuitous in locating this family and initiating the pedigree. This example of essentially benign (some males are fertile) Robertsonian centric fusion in humans lends itself to interesting speculations about the results from chance matings between such translocation carriers.