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November 1983, Vol 137, No. 11 >
Article | November 1983

'Expanded' Prader-Willi Syndrome in a Boy With an Unusual 15q Chromosome Deletion FREE

Richard M. Pauli, MD, PhD; Lorraine F. Meisner, PhD; Raymond J. Szmanda, DO
[+] Author Affiliations

Reprint requests to Clinical Genetics Center, University of Wisconsin-Madison, 1500 Highland Ave, Madison, WI 53705 (Dr Pauli).


Am J Dis Child. 1983;137(11):1087-1089. doi:10.1001/archpedi.1983.02140370047015.
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• A male infant showed features of the Prader-Willi syndrome (including profound hypotonia, cryptorchidism, and mildly dysmorphic facial appearance) but also had additional multiple malformations (congenital heart disease, unilateral renal malmigration, and bifid uvula). A deletion of the long arm of chromosome 15, larger than that usually demonstrated in children with Prader Willi syndrome, was found. The cytogenetic findings suggest that the infant's hypotonia and cryptorchidism are explicable on the basis of the portion of the deletion usually associated with Prader-Willi syndrome (q11 to q12) but that his other features could be secondary to effects of the more distal region of the deleted segment (q13 to q15).

(Am J Dis Child 1983;137:1087-1089)

REFERENCES

1 +
Hall BD, Smith DW:  Prader-Willi syndrome: A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence . J Pediatr 1972;;81:286-293.
2 +
Smith DW: Recognizable Patterns of Human Malformations , ed 3. Philadelphia, WB Saunders Co, 1982;.
3 +
Ledbetter DH, Mascarello JT, Riccardi VM, et al:  Chromosome 15 abnormalities and the Prader-Willi syndrome: A follow-up report of 40 cases . Am J Hum Genet 1982;;34:278-285.
4 +
Hawkey CJ, Smithies A:  The Prader-Willi syndrome with a 15/15 translocation: Case report and review of the literature . J Med Genet 1976;;13: 152-157.
5 +
Ledbetter DH, Riccardi VM, Airhart SD, et al:  Deletions of chromosome 15 as a cause of the Prader-Willi syndrome . N Engl J Med 1981;;304: 325-329.
6 +
Herva R, Vuorinen O:  Congenital heart disease with del(15q) mosaicism . Clin Genet 1980;;17:26-28.
7 +
Kučerová M, Straková M, Polívková Z:  The Prader-Willi syndrome with a 15/3 translocation . J Med Genet 1979;;16:234-235.
8 +
Duckett DP, Roberts SH:  Adjacent 2 meiotic disjunction: Report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature . Hum Genet 1981;;58:377-386.

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References

1 +
Hall BD, Smith DW:  Prader-Willi syndrome: A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence . J Pediatr 1972;;81:286-293.
2 +
Smith DW: Recognizable Patterns of Human Malformations , ed 3. Philadelphia, WB Saunders Co, 1982;.
3 +
Ledbetter DH, Mascarello JT, Riccardi VM, et al:  Chromosome 15 abnormalities and the Prader-Willi syndrome: A follow-up report of 40 cases . Am J Hum Genet 1982;;34:278-285.
4 +
Hawkey CJ, Smithies A:  The Prader-Willi syndrome with a 15/15 translocation: Case report and review of the literature . J Med Genet 1976;;13: 152-157.
5 +
Ledbetter DH, Riccardi VM, Airhart SD, et al:  Deletions of chromosome 15 as a cause of the Prader-Willi syndrome . N Engl J Med 1981;;304: 325-329.
6 +
Herva R, Vuorinen O:  Congenital heart disease with del(15q) mosaicism . Clin Genet 1980;;17:26-28.
7 +
Kučerová M, Straková M, Polívková Z:  The Prader-Willi syndrome with a 15/3 translocation . J Med Genet 1979;;16:234-235.
8 +
Duckett DP, Roberts SH:  Adjacent 2 meiotic disjunction: Report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature . Hum Genet 1981;;58:377-386.

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