Metacarpophalangeal Pattern Profile Analysis in Prader-Willi Syndrome

Overview

Journal Clin Genet

Specialty Genetics

Date 1982 Dec 1

PMID 7160103

Citations 15

Authors

M G Butler

S G Kaler

P L Yu

F J Meaney

Affiliations

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Abstract

Metacarpophalangeal pattern profile (MCPP) was determined on 16 Prader-Willi patients. Chromosome analysis of 14 patients showed an interstitial deletion of the long arm of chromosome 15 in seven subjects and normal chromosome results for the remaining individuals. Two separate and distinguishable hand profiles for each group based on the chromosome findings were identified. Correlation studies confirmed the homogeneity of the chromosome deletion group relative to the Prader-Willi individuals with normal chromosomes. Discriminant analysis of Prader-Willi versus normal individuals produces a function of three MCPP variables plus age which may provide a useful tool for diagnosis.

Citing Articles

Prader-Willi Syndrome: Clinical and Genetic Findings.

Butler M, Thompson T Endocrinologist. 2016; 10(4 Suppl 1):3S-16S.

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Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.

Donsante A, Johnson P, Jansen L, Kaler S Am J Med Genet A. 2010; 152A(10):2529-34.

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Metacarpophalangeal pattern profile analysis in Noonan syndrome.

Butler M, Kumar R, Davis M, Gale D, Dahir G, Meaney F Am J Med Genet. 2000; 92(2):128-31.

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Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes.

Roof E, Stone W, Maclean W, Feurer I, Thompson T, Butler M J Intellect Disabil Res. 2000; 44 ( Pt 1):25-30.

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Metacarpophalangeal pattern profile analysis in Williams syndrome.

Burns M, McLeod D, Linton L, Butler M Am J Med Genet. 1993; 47(4):471-4.

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References

FORSSMAN H, Hagberg B . PRADER-WILLI SYNDROME IN BOY OF TEN WITH PREDIABETES. Acta Paediatr (Stockh). 1964; 53:70-8. DOI: 10.1111/j.1651-2227.1964.tb07208.x. View

Ledbetter D, Riccardi V, Airhart S, STROBEL R, Keenan B, Crawford J . Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med. 1981; 304(6):325-9. DOI: 10.1056/NEJM198102053040604. View

POZNANSKI A, Garn S, Nagy J, Gall Jr J . Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations. Radiology. 1972; 104(1):1-11. DOI: 10.1148/104.1.1. View

Escobar V, Bixler D . The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. Clin Genet. 1977; 11(4):295-35. DOI: 10.1111/j.1399-0004.1977.tb01316.x. View

LAURANCE B . Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children. Arch Dis Child. 1967; 42(222):126-39. PMC: 2019702. DOI: 10.1136/adc.42.222.126. View