Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation

Linda A. Cannizzaro; Frederick Hecht

doi:10.1111/j.1399-0004.1987.tb03326.x

Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation

Linda A. Cannizzaro, Frederick Hecht

Research output: Contribution to journal › Article › peer-review

52 Scopus citations

Abstract

Incontinentia pigmenti (IP) is a genetic disease that is usually lethal in males. We report finding an X;10 translocation in a girl with IP. Three other X/autosome translations have been observed in females with IP: two involving chromosome 9 and one involving chromosome 17. The breakpoint in all four cases in the X chromosome was in band Xp11. The IP gene locus can therefore be confidently assigned to the X chromosome and, specifically, to band Xp11. The IP gene is most likely in subband Xp11.2. We propose that IP may prove to be a submicroscopic deletion.

Original language	English (US)
Pages (from-to)	66-69
Number of pages	4
Journal	Clinical Genetics
Volume	32
Issue number	1
DOIs	https://doi.org/10.1111/j.1399-0004.1987.tb03326.x
State	Published - Jul 1987
Externally published	Yes

Keywords

Bloch‐Sulzberger syndrome
X chromosome
X/autosome translocation
chromosome localization
gene mapping
incontinentia pigmenti

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/j.1399-0004.1987.tb03326.x

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title = "Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation",

abstract = "Incontinentia pigmenti (IP) is a genetic disease that is usually lethal in males. We report finding an X;10 translocation in a girl with IP. Three other X/autosome translations have been observed in females with IP: two involving chromosome 9 and one involving chromosome 17. The breakpoint in all four cases in the X chromosome was in band Xp11. The IP gene locus can therefore be confidently assigned to the X chromosome and, specifically, to band Xp11. The IP gene is most likely in subband Xp11.2. We propose that IP may prove to be a submicroscopic deletion.",

keywords = "Bloch‐Sulzberger syndrome, X chromosome, X/autosome translocation, chromosome localization, gene mapping, incontinentia pigmenti",

author = "Cannizzaro, {Linda A.} and Frederick Hecht",

year = "1987",

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doi = "10.1111/j.1399-0004.1987.tb03326.x",

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T1 - Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation

AU - Cannizzaro, Linda A.

AU - Hecht, Frederick

PY - 1987/7

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N2 - Incontinentia pigmenti (IP) is a genetic disease that is usually lethal in males. We report finding an X;10 translocation in a girl with IP. Three other X/autosome translations have been observed in females with IP: two involving chromosome 9 and one involving chromosome 17. The breakpoint in all four cases in the X chromosome was in band Xp11. The IP gene locus can therefore be confidently assigned to the X chromosome and, specifically, to band Xp11. The IP gene is most likely in subband Xp11.2. We propose that IP may prove to be a submicroscopic deletion.

AB - Incontinentia pigmenti (IP) is a genetic disease that is usually lethal in males. We report finding an X;10 translocation in a girl with IP. Three other X/autosome translations have been observed in females with IP: two involving chromosome 9 and one involving chromosome 17. The breakpoint in all four cases in the X chromosome was in band Xp11. The IP gene locus can therefore be confidently assigned to the X chromosome and, specifically, to band Xp11. The IP gene is most likely in subband Xp11.2. We propose that IP may prove to be a submicroscopic deletion.

KW - Bloch‐Sulzberger syndrome

KW - X chromosome

KW - X/autosome translocation

KW - chromosome localization

KW - gene mapping

KW - incontinentia pigmenti

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Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation

Abstract

Keywords

ASJC Scopus subject areas

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