Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3

Atsuko Honda; Jiro Ono; Hiroki Kurahashi; Toshiyuki Mano; Katsumi Imai; Shintaro Okada

doi:10.1016/S0387-7604(98)00018-7

Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3

Atsuko Honda, Jiro Ono, Hiroki Kurahashi, Toshiyuki Mano, Katsumi Imai, Shintaro Okada

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

3 Citations (Scopus)

Abstract

We describe a patient with isolated lissencephaly sequence (ILS) who had a de novo balanced translocation with breakpoint at 8p11.23 and 17p13.3. She developed infantile spasms and had severe developmental delay. There was no apparent deletion of 17p13.3 on fluorescence in situ hybridization (FISH) analysis. The breakpoint was located centromeric to the Miller-Dieker syndrome (MDS) marker (D17S379), and telomeric to the marker D17S1566, which is located centromeric to the LIS1 gene. This is the second reported case of ILS with balanced translocation. It is suspected that the breakpoint of 17p13.3 in this patient is located in the responsible gene for ILS.

Original language	English
Pages (from-to)	190-192
Number of pages	3
Journal	Brain and Development
Volume	20
Issue number	3
DOIs	https://doi.org/10.1016/S0387-7604(98)00018-7
Publication status	Published - 04-1998
Externally published	Yes

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Clinical Neurology

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10.1016/S0387-7604(98)00018-7

Cite this

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title = "Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3",

abstract = "We describe a patient with isolated lissencephaly sequence (ILS) who had a de novo balanced translocation with breakpoint at 8p11.23 and 17p13.3. She developed infantile spasms and had severe developmental delay. There was no apparent deletion of 17p13.3 on fluorescence in situ hybridization (FISH) analysis. The breakpoint was located centromeric to the Miller-Dieker syndrome (MDS) marker (D17S379), and telomeric to the marker D17S1566, which is located centromeric to the LIS1 gene. This is the second reported case of ILS with balanced translocation. It is suspected that the breakpoint of 17p13.3 in this patient is located in the responsible gene for ILS.",

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T1 - Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3

AU - Honda, Atsuko

AU - Ono, Jiro

AU - Kurahashi, Hiroki

AU - Mano, Toshiyuki

AU - Imai, Katsumi

AU - Okada, Shintaro

PY - 1998/4

Y1 - 1998/4

N2 - We describe a patient with isolated lissencephaly sequence (ILS) who had a de novo balanced translocation with breakpoint at 8p11.23 and 17p13.3. She developed infantile spasms and had severe developmental delay. There was no apparent deletion of 17p13.3 on fluorescence in situ hybridization (FISH) analysis. The breakpoint was located centromeric to the Miller-Dieker syndrome (MDS) marker (D17S379), and telomeric to the marker D17S1566, which is located centromeric to the LIS1 gene. This is the second reported case of ILS with balanced translocation. It is suspected that the breakpoint of 17p13.3 in this patient is located in the responsible gene for ILS.

AB - We describe a patient with isolated lissencephaly sequence (ILS) who had a de novo balanced translocation with breakpoint at 8p11.23 and 17p13.3. She developed infantile spasms and had severe developmental delay. There was no apparent deletion of 17p13.3 on fluorescence in situ hybridization (FISH) analysis. The breakpoint was located centromeric to the Miller-Dieker syndrome (MDS) marker (D17S379), and telomeric to the marker D17S1566, which is located centromeric to the LIS1 gene. This is the second reported case of ILS with balanced translocation. It is suspected that the breakpoint of 17p13.3 in this patient is located in the responsible gene for ILS.

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Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3

Abstract

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