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Case Reports
. 2012 Jan;18(1):117-8.
doi: 10.4103/0971-6866.96677.

Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study

Yamini S Pokale  1 , Ajinkya M Jadhav, Ushang Kate
Affiliations
Case Reports

Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study

Yamini S Pokale et al. Indian J Hum Genet. 2012 Jan.

Abstract

We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic signs described in the classical Wolf-Hirschhorn syndrome were found on clinical examination of our patient.

Keywords: 4p; Chromosomes; Wolf–Hirschhorn syndrome; chromosome deletion; karyotyping; micrognathia.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Partial karyotype of the proband- 46,XY,del(4)(p14)
Figure 2
Figure 2
Partial karyotype of proband's mother-46,XX,inv(4)(p14;q35)
See this image and copyright information in PMC

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References

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