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August 1975, Vol 129, No. 8 >
Article | August 1975

Further Identification of a D/E Translocation FREE

Philip L. Townes, MD, PhD; Marie R. White
[+] Author Affiliations

Received for publication June 25, 1974; accepted Sept 13.

Reprint requests to Division of Genetics, University of Rochester School of Medicine and Dentistry, 260 Crittenden Blvd, Rochester, NY 14642 (Dr. Townes).


Am J Dis Child. 1975;129(8):959-961. doi:10.1001/archpedi.1975.02120450065015.
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• An infant previously reported to have psychomotor retardation and multiple congenital anomalies including hypotonia, failure to thrive, peculiar facies, low-set ears, micrognathia, and cryptorchidism in association with monosomy due to a D/E (13-15/17-18) translocation has been reexamined. Further cytogenetic studies, using fluorescent techniques, indicate the translocation involves chromosomes 15 and 17.

Only two other patients with partial monosomy due to grossly similar D/E translocations have been reported. On reexamination, the translocation in one has recently been found to involve chromosomes 15 and 18 and that in the other has not been further defined.

(Am J Dis Child 129:959-961, 1975)

REFERENCES

1 +
Townes PL, Ziegler NA:  D/E (13-15/17-18) translocation: Occurrence in an infant with 45 chromosomes . Am J Dis Child 110:686-688, 1965;.
2 +
Briebart S, Mellman WJ, Eberlein WR:  Developmental retardation associated with an unbalanced 13-15/18 translocation . Cytogenetics 3:252, 1964;.
3 +
Caspersson T, Lomakka G, Zech L:  24 fluorescence patterns of human metaphase chromosomes: Distinguishing characters and variability . Hereditas 67:89-102, 1971;.
4 +
Borgaonkar DS, Mules E, Scott CI Jr:  An infant with 45 chromosomes including a D/E (13-15/17-18) translocation chromosome . Johns Hopkins Med J 128:282-288, 1971;.
5 +
Borgaonkar DS, Ebenezer L, Scott CI Jr, et al:  Identification of a D/E (15/18) translocation chromosome by quinacrine fluorescence and urea banding techniques . Humangenetik 17:317-321, 1973;.
6 +
Craig AP, Luzzatti L:  Translocation in trisomy D syndrome: A probable case of D/18 translocation . J Pediatr 70:264-269, 1967;.
7 +
Orye E, Van Nevel C:  Familial D/E translocation . Humangenetik 6:191-199, 1968;.
8 +
McGilvary E, Kajii T, Freund M, et al:  A balanced 13/18 translocation [46,XY,t(13q−; 18q+ )] in the father of an infant with multiple anomalies . Humangenetik 12:316-322, 1971;.

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References

1 +
Townes PL, Ziegler NA:  D/E (13-15/17-18) translocation: Occurrence in an infant with 45 chromosomes . Am J Dis Child 110:686-688, 1965;.
2 +
Briebart S, Mellman WJ, Eberlein WR:  Developmental retardation associated with an unbalanced 13-15/18 translocation . Cytogenetics 3:252, 1964;.
3 +
Caspersson T, Lomakka G, Zech L:  24 fluorescence patterns of human metaphase chromosomes: Distinguishing characters and variability . Hereditas 67:89-102, 1971;.
4 +
Borgaonkar DS, Mules E, Scott CI Jr:  An infant with 45 chromosomes including a D/E (13-15/17-18) translocation chromosome . Johns Hopkins Med J 128:282-288, 1971;.
5 +
Borgaonkar DS, Ebenezer L, Scott CI Jr, et al:  Identification of a D/E (15/18) translocation chromosome by quinacrine fluorescence and urea banding techniques . Humangenetik 17:317-321, 1973;.
6 +
Craig AP, Luzzatti L:  Translocation in trisomy D syndrome: A probable case of D/18 translocation . J Pediatr 70:264-269, 1967;.
7 +
Orye E, Van Nevel C:  Familial D/E translocation . Humangenetik 6:191-199, 1968;.
8 +
McGilvary E, Kajii T, Freund M, et al:  A balanced 13/18 translocation [46,XY,t(13q−; 18q+ )] in the father of an infant with multiple anomalies . Humangenetik 12:316-322, 1971;.

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