Interstitial duplication of 7(q22→q34)

R. F. Stratton; B. R. DuPont; V. L. Mattern; R. L. Schelonka; C. M. Moore

doi:10.1002/ajmg.1320470316

Interstitial duplication of 7(q22→q34)

R. F. Stratton, B. R. DuPont, V. L. Mattern, R. L. Schelonka, C. M. Moore

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

12 Scopus citations

Abstract

We report on a 3-year-old boy with an interstitial duplication of 7(q22→q34), confirmed with fluorescent in-situ hybridization. He had post- natal growth retardation, developmental delay, frontal and parietal bossing, deep-set eyes, strabismus, bilateral optic nerve hypoplasia, and mild dilatation of the cerebral ventricles. His phenotype was not significantly different from that of the three previously reported patients with interstitial duplication of the smaller segment 7(q22→q31).

Original language	English (US)
Pages (from-to)	380-382
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	47
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.1320470316
State	Published - 1993
Externally published	Yes

Keywords

7q22→q34
duplication
interstitial
long arm

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320470316

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title = "Interstitial duplication of 7(q22→q34)",

abstract = "We report on a 3-year-old boy with an interstitial duplication of 7(q22→q34), confirmed with fluorescent in-situ hybridization. He had post- natal growth retardation, developmental delay, frontal and parietal bossing, deep-set eyes, strabismus, bilateral optic nerve hypoplasia, and mild dilatation of the cerebral ventricles. His phenotype was not significantly different from that of the three previously reported patients with interstitial duplication of the smaller segment 7(q22→q31).",

keywords = "7q22→q34, duplication, interstitial, long arm",

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AU - Stratton, R. F.

AU - DuPont, B. R.

AU - Mattern, V. L.

AU - Schelonka, R. L.

AU - Moore, C. M.

PY - 1993

Y1 - 1993

N2 - We report on a 3-year-old boy with an interstitial duplication of 7(q22→q34), confirmed with fluorescent in-situ hybridization. He had post- natal growth retardation, developmental delay, frontal and parietal bossing, deep-set eyes, strabismus, bilateral optic nerve hypoplasia, and mild dilatation of the cerebral ventricles. His phenotype was not significantly different from that of the three previously reported patients with interstitial duplication of the smaller segment 7(q22→q31).

AB - We report on a 3-year-old boy with an interstitial duplication of 7(q22→q34), confirmed with fluorescent in-situ hybridization. He had post- natal growth retardation, developmental delay, frontal and parietal bossing, deep-set eyes, strabismus, bilateral optic nerve hypoplasia, and mild dilatation of the cerebral ventricles. His phenotype was not significantly different from that of the three previously reported patients with interstitial duplication of the smaller segment 7(q22→q31).

KW - 7q22→q34

KW - duplication

KW - interstitial

KW - long arm

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JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 3

ER -

Interstitial duplication of 7(q22→q34)

Abstract

Keywords

ASJC Scopus subject areas

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