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December 1972, Vol 124, No. 6 >
Article | December 1972

An 18p21q Translocation in a Patient With Presumptive "Monosomy G" FREE

Maimon M. Cohen, PhD; Theodore I. Putnam, MD
[+] Author Affiliations

Received for publication April 7, 1972; accepted June 20.

Reprint requests to Division of Human Genetics, Children's Hospital, 86 Hodge Ave, Buffalo 14222 (Dr. Cohen).


Am J Dis Child. 1972;124(6):908-910. doi:10.1001/archpedi.1972.02110180110016.
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A 3½-year-old retarded girl had multiple congenital anomalies. Cytogenetic analysis revealed a karyotype with a modal number of 2N = 45 and one member of the G (21-22) group consistently absent in lymphocytes and skin fibroblasts. The original diagnosis was "monosomy G" but reanalysis following fluorescence and Giemsa banding techniques demonstrated a translocation involving chromosomes 18 and 21 (45,XX,18-,21-, t[18p21q]). The patient therefore possesses the 18psyndrome and her phenotypic findings are compatible.

REFERENCES

1 +
Thorburn MJ, Johnson BE:  Apparent monosomy of a G autosome in a Jamaican infant . J Med Genet 3:290-292, 1966;.
2 +
Al-Aish MA, et al:  Autosomal monosomy in man: Complete monosomy G (21-22) in a 4½-year-old mentally retarded girl . N Engl J Med 277:777-784, 1967;.
3 +
Hall B, Fredga K, Svenningsen N:  A case of monosomy G . Hereditas 57:356-364, 1967;.
4 +
Moorhead PS, et al:  Chromosome preparations of leukocytes cultured from human peripheral blood . Exp Cell Res 20:613-616, 1960;.
5 +
Lin CC, Uchida IA, Byrnes E:  A suggestion for the nomenclature of the fluorescent banding patterns in human metaphase chromosomes . Can J Genet Cytol 13:361-363, 1971;.
6 +
Sumner AT, Evans HJ, Buckland RA:  A new technique for distinguishing between human chromosomes . Nature (New Biol) 232:31-32, 1971;.
7 +
de Grouchy J: The 18p-, 18q- and 18r Syndromes . Birth Defects Original Article series, the National Foundation-March of Dimes, 1969;, vol 5, pp 74-87.

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References

1 +
Thorburn MJ, Johnson BE:  Apparent monosomy of a G autosome in a Jamaican infant . J Med Genet 3:290-292, 1966;.
2 +
Al-Aish MA, et al:  Autosomal monosomy in man: Complete monosomy G (21-22) in a 4½-year-old mentally retarded girl . N Engl J Med 277:777-784, 1967;.
3 +
Hall B, Fredga K, Svenningsen N:  A case of monosomy G . Hereditas 57:356-364, 1967;.
4 +
Moorhead PS, et al:  Chromosome preparations of leukocytes cultured from human peripheral blood . Exp Cell Res 20:613-616, 1960;.
5 +
Lin CC, Uchida IA, Byrnes E:  A suggestion for the nomenclature of the fluorescent banding patterns in human metaphase chromosomes . Can J Genet Cytol 13:361-363, 1971;.
6 +
Sumner AT, Evans HJ, Buckland RA:  A new technique for distinguishing between human chromosomes . Nature (New Biol) 232:31-32, 1971;.
7 +
de Grouchy J: The 18p-, 18q- and 18r Syndromes . Birth Defects Original Article series, the National Foundation-March of Dimes, 1969;, vol 5, pp 74-87.

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