Identical twins with deletion 16q syndrome: Evidence that 16q12.2-q13 is the critical band region

F. F.B. Elder; J. W. Ferguson; L. H. Lockhart

doi:10.1007/BF00273010

Identical twins with deletion 16q syndrome: Evidence that 16q12.2-q13 is the critical band region

F. F.B. Elder, J. W. Ferguson, L. H. Lockhart

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16 Scopus citations

Abstract

An interstitial deletion of the long arm of chromosome 16 has been identified in identical twins. These patients are strikingly similar phenotypically to previously reported cases of deletion 16q syndrome but differ chromosomally in that their deletion involves the 16q12.2-q13 rather than the 16q21. We propose that the 16q12.2-q13 is the "critical region" in the production of this rare but distinctive phenotype.

Original language	English (US)
Pages (from-to)	233-236
Number of pages	4
Journal	Human genetics
Volume	67
Issue number	2
DOIs	https://doi.org/10.1007/BF00273010
State	Published - Jul 1984
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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abstract = "An interstitial deletion of the long arm of chromosome 16 has been identified in identical twins. These patients are strikingly similar phenotypically to previously reported cases of deletion 16q syndrome but differ chromosomally in that their deletion involves the 16q12.2-q13 rather than the 16q21. We propose that the 16q12.2-q13 is the {"}critical region{"} in the production of this rare but distinctive phenotype.",

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year = "1984",

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AU - Ferguson, J. W.

AU - Lockhart, L. H.

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AB - An interstitial deletion of the long arm of chromosome 16 has been identified in identical twins. These patients are strikingly similar phenotypically to previously reported cases of deletion 16q syndrome but differ chromosomally in that their deletion involves the 16q12.2-q13 rather than the 16q21. We propose that the 16q12.2-q13 is the "critical region" in the production of this rare but distinctive phenotype.

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Identical twins with deletion 16q syndrome: Evidence that 16q12.2-q13 is the critical band region

Abstract

ASJC Scopus subject areas

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