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A Presumptive Y-Autosome Translocation in a Boy With Congenital Malformations FREE

Yasuo Nakagome, MD; Hugo D. Smith, MD; Shirley W. Soukup, PhD
[+] Author Affiliations

Received for publication Nov 16, 1967.

Reprint requests to Children's Hospital Research Foundation, Cincinnati 45229 (Dr. Nakagome).


Am J Dis Child. 1968;116(2):205-210. doi:10.1001/archpedi.1968.02100020207016.
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ALTHOUGH a great variety of autosomal translocations have been described in man (Thompson1), little is known about the translocations between a sex chromosome and an autosome. A translocation which involves both an X chromosome and an autosome has been well documented in the mouse,2-4 but has not been well established in man, although there have been a few reports of presumptive cases.5-7 Recently Neuhäuser and Back8 reported the case of a girl with multiple malformations with a possible translocation between one of the C-group autosomes and an X chromosome; they based their interpretation on the karyotype and the deoxyribonucleic acid replication patterns.

Reports of a translocation of the Y chromosome to an autosome are even rarer than those involving the X chromosome. The cases described by Federman et al9 and van den Berghe10 are the only two in which a recognizable amount of a Y chromosome was thought to be

REFERENCES

Thompson, H.:  Abnormalities of the Autosomal Chromosomes Associated With Human Disease: Selected Topics and Catalogue , Amer J Med Sci 250: 718-734 ( (Dec) ) 1965;
251:706-735 (June) 1966.
Russell, L.B.:  Genetics of Mammalian Sex Chromosomes , Science 133:1795-8103 ( (June 9) ) 1961;.
Ford, C.E., and Evans, E.P.:  A Reciprocal Translocation in the Mouse Between the X Chromosome and a Short Autosome , Cytogenetics 3: 295-305, 1964;.
Lyon, M.F., et al:  A Mouse Translocation Suppressing Sex-linked Variegation , Cytogenetics 3:306-323, 1964;.
Hugh-Jones, K., et al:  Gonadal Dysgenesis With Unusual Abnormalities , Arch Dis Child 40: 274-279 ( (June) ) 1965;.
Mann, J.D., et al:  A Case of Primary Amenorrhea With a Translocation Involving Chromosomes of Group B and C , Amer J Hum Genet 17:377-383 ( (Sept) ) 1965;.
Mukerjee, D., and Burdette, W.J.:  Multiple Congenital Anomalies Associated With a Ring 3 Chromosome and Translocated 3/X Chromosome , Nature 212:153-155 ( (Oct 8) ) 1966;.
Neuhäuser, G., and Back, F.:  X-Autosom-Translokation bei einem Kind mit multiplen Missbildungen , Humangenetik 3:300-311 ( (Feb) ) 1967;.
Federman, D.D.; Davidoff, F.M.; and Ouellette, E.:  Presumptive Y/D Translocation in Mixed Gonadal Dysgenesis , J Med Genet 4:36-40 ( (March) ) 1967;.
van den Berghe, H.; Steeno, O.; and Verresen, H.:  Hypogonadism Associated With Chromosomal Break In Autosome No. 2 and Translocation Presumably on the Y Chromosome , J Clin Endocr 25: 1246-1250 ( (Sept) ) 1965;.
Ferguson-Smith, M.A.:  X-Y Chromosomal Interchange in the Aetiology of True Hermaphroditism and of XX Klinefelter's Syndrome , Lancet 2:475-476 ( (Aug 27) ) 1966;.
Moorhead, P.S., et al:  Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exp Cell Res 20:613-616 ( (Sept) ) 1960;.
Hsu, T.C., and Kellogg, D.S.:  Primary Cultivation and Continuous Propagation In Vitro of Tissues From Small Biopsy Specimens , J Nat Cancer Inst 25:221-235 ( (Aug) ) 1960;.
 The London Conference on the Normal Human Karyotype , Amer J Hum Genet 16:156-158 ( (March) ) 1964;.
Chicago Conference:  Standardization in Human Cytogenetics , Birth Defects Original Article Series , II: No. (2) , New York: The National Foundation, 1966;.
Miller, O.J.:  The Sex Chromosome Anomalies , Amer J Obstet Gynec 90:1078-1139 ( (Dec 1) ) 1964;.
Jacobs, P.A., et al:  Aggressive Behaviour, Mental Subnormality and the XYY Male , Nature 208:1351-1352 ( (Dec 25) ) 1965;.
Penrose, L.S.:  Fingerprint Pattern and the Sex Chromosomes , Lancet 1:298-300 ( (Feb 11) ) 1967;.
Smith, D.W.:  Autosomal Abnormalities , Amer J Obstet Gynec 90:1055-1077 ( (Dec 1) ) 1964;.
Warkany, J.; Passarge, E.; and Smith, L.B.:  Congenital Malformations in Autosomal Trisomy Syndromes , Amer J Dis Child 112:502-517 ( (Dec) ) 1966;.
Uchida, I.A.; Patau, K.; and Smith, D.W.:  Dermal Patterns of 18 and D, Trisomics , Amer J Hum Genet 14:345-352 ( (Dec) ) 1962;.
El-Alfi, O.S.; Biesele, J.J.; and Smith, P.M.:  Trisomy 18 in a Hydrocephalic Fetus , J Pediat 65: 67, 1964;.
Zellweger, H.; Mikamo, K.; and Abbo, G.:  Two Cases of Non-Mongoloid Trisomy G , Ann Paediat 199:613-624, 1962;.
Biesele, J.J.; Schmid, W.; and Lawlis, M.G.:  Mentally Retarded Schizoid Twin Girls With 47 Chromosomes , Lancet 1:403-405 ( (Feb 24) ) 1962;.

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References

Thompson, H.:  Abnormalities of the Autosomal Chromosomes Associated With Human Disease: Selected Topics and Catalogue , Amer J Med Sci 250: 718-734 ( (Dec) ) 1965;
251:706-735 (June) 1966.
Russell, L.B.:  Genetics of Mammalian Sex Chromosomes , Science 133:1795-8103 ( (June 9) ) 1961;.
Ford, C.E., and Evans, E.P.:  A Reciprocal Translocation in the Mouse Between the X Chromosome and a Short Autosome , Cytogenetics 3: 295-305, 1964;.
Lyon, M.F., et al:  A Mouse Translocation Suppressing Sex-linked Variegation , Cytogenetics 3:306-323, 1964;.
Hugh-Jones, K., et al:  Gonadal Dysgenesis With Unusual Abnormalities , Arch Dis Child 40: 274-279 ( (June) ) 1965;.
Mann, J.D., et al:  A Case of Primary Amenorrhea With a Translocation Involving Chromosomes of Group B and C , Amer J Hum Genet 17:377-383 ( (Sept) ) 1965;.
Mukerjee, D., and Burdette, W.J.:  Multiple Congenital Anomalies Associated With a Ring 3 Chromosome and Translocated 3/X Chromosome , Nature 212:153-155 ( (Oct 8) ) 1966;.
Neuhäuser, G., and Back, F.:  X-Autosom-Translokation bei einem Kind mit multiplen Missbildungen , Humangenetik 3:300-311 ( (Feb) ) 1967;.
Federman, D.D.; Davidoff, F.M.; and Ouellette, E.:  Presumptive Y/D Translocation in Mixed Gonadal Dysgenesis , J Med Genet 4:36-40 ( (March) ) 1967;.
van den Berghe, H.; Steeno, O.; and Verresen, H.:  Hypogonadism Associated With Chromosomal Break In Autosome No. 2 and Translocation Presumably on the Y Chromosome , J Clin Endocr 25: 1246-1250 ( (Sept) ) 1965;.
Ferguson-Smith, M.A.:  X-Y Chromosomal Interchange in the Aetiology of True Hermaphroditism and of XX Klinefelter's Syndrome , Lancet 2:475-476 ( (Aug 27) ) 1966;.
Moorhead, P.S., et al:  Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exp Cell Res 20:613-616 ( (Sept) ) 1960;.
Hsu, T.C., and Kellogg, D.S.:  Primary Cultivation and Continuous Propagation In Vitro of Tissues From Small Biopsy Specimens , J Nat Cancer Inst 25:221-235 ( (Aug) ) 1960;.
 The London Conference on the Normal Human Karyotype , Amer J Hum Genet 16:156-158 ( (March) ) 1964;.
Chicago Conference:  Standardization in Human Cytogenetics , Birth Defects Original Article Series , II: No. (2) , New York: The National Foundation, 1966;.
Miller, O.J.:  The Sex Chromosome Anomalies , Amer J Obstet Gynec 90:1078-1139 ( (Dec 1) ) 1964;.
Jacobs, P.A., et al:  Aggressive Behaviour, Mental Subnormality and the XYY Male , Nature 208:1351-1352 ( (Dec 25) ) 1965;.
Penrose, L.S.:  Fingerprint Pattern and the Sex Chromosomes , Lancet 1:298-300 ( (Feb 11) ) 1967;.
Smith, D.W.:  Autosomal Abnormalities , Amer J Obstet Gynec 90:1055-1077 ( (Dec 1) ) 1964;.
Warkany, J.; Passarge, E.; and Smith, L.B.:  Congenital Malformations in Autosomal Trisomy Syndromes , Amer J Dis Child 112:502-517 ( (Dec) ) 1966;.
Uchida, I.A.; Patau, K.; and Smith, D.W.:  Dermal Patterns of 18 and D, Trisomics , Amer J Hum Genet 14:345-352 ( (Dec) ) 1962;.
El-Alfi, O.S.; Biesele, J.J.; and Smith, P.M.:  Trisomy 18 in a Hydrocephalic Fetus , J Pediat 65: 67, 1964;.
Zellweger, H.; Mikamo, K.; and Abbo, G.:  Two Cases of Non-Mongoloid Trisomy G , Ann Paediat 199:613-624, 1962;.
Biesele, J.J.; Schmid, W.; and Lawlis, M.G.:  Mentally Retarded Schizoid Twin Girls With 47 Chromosomes , Lancet 1:403-405 ( (Feb 24) ) 1962;.

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